Canonical Allele Identifier: CA370429399

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061423-T-G
• MyVariant Identifiers: chr8:g.17918932T>G (hg19) ; chr8:g.18061423T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061423T>G , CM000670.2:g.18061423T>G	GRCh38
NC_000008.10:g.17918932T>G , CM000670.1:g.17918932T>G	GRCh37
NC_000008.9:g.17963212T>G	NCBI36
NG_008985.1:g.28576A>C
NG_008985.2:g.28576A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.787A>C	ENSP00000371152.4:p.Met263Leu
ENST00000517409.2:n.707A>C
ENST00000518746.2:n.2425A>C
ENST00000519545.6:n.756A>C
ENST00000520781.6:c.664A>C	ENSP00000427751.1:p.Met222Leu
ENST00000521542.2:n.47A>C
ENST00000635756.1:c.152A>C
ENST00000635944.1:c.*575A>C	ENSP00000490195.1:n.*575A>C
ENST00000635998.1:c.739A>C	ENSP00000490506.1:p.Met247Leu
ENST00000636009.1:c.596A>C	ENSP00000489988.1:n.596A>C
ENST00000636033.1:c.*575A>C	ENSP00000489617.1:n.*575A>C
ENST00000636050.1:c.*582A>C	ENSP00000490562.1:n.*582A>C
ENST00000636128.1:c.418A>C	ENSP00000489789.1:p.Met140Leu
ENST00000636160.1:c.*631A>C	ENSP00000489651.1:n.*631A>C
ENST00000636171.1:c.682A>C	ENSP00000489761.1:p.Met228Leu
ENST00000636455.1:c.787A>C	ENSP00000490502.1:p.Met263Leu
ENST00000636494.1:c.*519A>C	ENSP00000490388.1:n.*519A>C
ENST00000636563.1:n.401A>C
ENST00000636577.1:c.679A>C	ENSP00000490027.1:p.Met227Leu
ENST00000636691.1:c.544A>C	ENSP00000490725.1:p.Met182Leu
ENST00000636701.1:c.*390A>C	ENSP00000489800.1:n.*390A>C
ENST00000636815.1:c.656A>C
ENST00000636920.1:c.*575A>C	ENSP00000490437.1:n.*575A>C
ENST00000636997.1:c.652A>C	ENSP00000490093.1:p.Met218Leu
ENST00000637013.1:c.*1107A>C	ENSP00000490596.1:n.*1107A>C
ENST00000637014.1:n.1146A>C
ENST00000637095.1:c.*519A>C	ENSP00000490415.1:n.*519A>C
ENST00000637244.1:c.*1257A>C	ENSP00000490188.1:n.*1257A>C
ENST00000637343.1:n.2176A>C
ENST00000637429.1:c.*951A>C	ENSP00000490522.1:n.*951A>C
ENST00000637484.1:c.*701A>C	ENSP00000490837.1:n.*701A>C
ENST00000637528.1:c.676A>C	ENSP00000490801.1:p.Met226Leu
ENST00000637609.1:n.3460A>C
ENST00000637636.1:c.733A>C	ENSP00000490112.1:p.Met245Leu
ENST00000637790.2:c.739A>C MANE Select	ENSP00000490272.1:p.Met247Leu
ENST00000637857.1:n.1105A>C
ENST00000637922.1:c.544A>C	ENSP00000490071.1:p.Met182Leu
ENST00000637991.1:c.712A>C	ENSP00000489901.1:p.Met238Leu
ENST00000638028.1:n.956A>C
ENST00000638069.1:n.1560A>C
ENST00000262097.10:c.739A>C	ENSP00000262097.6:p.Met247Leu
ENST00000314146.10:c.721A>C	ENSP00000326970.10:p.Met241Leu
ENST00000381733.8:c.787A>C	ENSP00000371152.4:p.Met263Leu
ENST00000518746.1:n.556A>C
ENST00000519468.5:n.568A>C
ENST00000520781.5:c.664A>C	ENSP00000427751.1:p.Met222Leu
ENST00000521542.1:n.452A>C
NM_001127505.1:c.721A>C	NP_001120977.1:p.Met241Leu
NM_001127505.2:c.721A>C	NP_001120977.1:p.Met241Leu
NM_004315.4:c.787A>C	NP_004306.3:p.Met263Leu
NM_004315.5:c.787A>C	NP_004306.3:p.Met263Leu
NM_177924.3:c.739A>C	NP_808592.2:p.Met247Leu
NM_177924.4:c.739A>C	NP_808592.2:p.Met247Leu
XM_005273504.2:c.673A>C	XP_005273561.1:p.Met225Leu
NM_001363743.1:c.544A>C	NP_001350672.1:p.Met182Leu
XM_005273504.3:c.673A>C	XP_005273561.1:p.Met225Leu
NM_177924.5:c.739A>C MANE Select	NP_808592.2:p.Met247Leu
NM_001127505.3:c.721A>C	NP_001120977.1:p.Met241Leu
NM_001363743.2:c.544A>C	NP_001350672.1:p.Met182Leu
NM_004315.6:c.787A>C	NP_004306.3:p.Met263Leu