Canonical Allele Identifier: CA4650546

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18058834C>A , CM000670.2:g.18058834C>A	GRCh38
NC_000008.10:g.17916343C>A , CM000670.1:g.17916343C>A	GRCh37
NC_000008.9:g.17960623C>A	NCBI36
NG_008985.1:g.31165G>T
NG_008985.2:g.31165G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.1098+1G>T MANE Select	NP_808592.2:n.1098+1G>T
ENST00000637790.2:c.1098+1G>T MANE Select	ENSP00000490272.1:n.1098+1G>T
NM_001127505.1:c.1080+1G>T	NP_001120977.1:n.1080+1G>T
NM_001127505.2:c.1080+1G>T	NP_001120977.1:n.1080+1G>T
NM_001127505.3:c.1080+1G>T	NP_001120977.1:n.1080+1G>T
NM_001363743.1:c.903+1G>T	NP_001350672.1:n.903+1G>T
NM_001363743.2:c.903+1G>T	NP_001350672.1:n.903+1G>T
NM_004315.4:c.1146+1G>T	NP_004306.3:n.1146+1G>T
NM_004315.5:c.1146+1G>T	NP_004306.3:n.1146+1G>T
NM_004315.6:c.1146+1G>T	NP_004306.3:n.1146+1G>T
NM_177924.3:c.1098+1G>T	NP_808592.2:n.1098+1G>T
NM_177924.4:c.1098+1G>T	NP_808592.2:n.1098+1G>T
ENST00000262097.10:c.1098+1G>T	ENSP00000262097.6:n.1098+1G>T
ENST00000314146.10:c.1080+1G>T	ENSP00000326970.10:n.1080+1G>T
ENST00000381733.8:c.1146+1G>T	ENSP00000371152.4:n.1146+1G>T
ENST00000381733.9:c.1146+1G>T	ENSP00000371152.4:n.1146+1G>T
ENST00000518746.2:n.2784+1G>T
ENST00000520781.5:c.1023+1G>T	ENSP00000427751.1:n.1023+1G>T
ENST00000520781.6:c.1023+1G>T	ENSP00000427751.1:n.1023+1G>T
ENST00000635756.1:c.511+1G>T
ENST00000635944.1:c.*934+1G>T	ENSP00000490195.1:n.*934+1G>T
ENST00000635998.1:c.1098+1G>T	ENSP00000490506.1:n.1098+1G>T
ENST00000636009.1:c.955+1G>T	ENSP00000489988.1:n.955+1G>T
ENST00000636033.1:c.*934+1G>T	ENSP00000489617.1:n.*934+1G>T
ENST00000636050.1:c.*941+1G>T	ENSP00000490562.1:n.*941+1G>T
ENST00000636128.1:c.777+1G>T	ENSP00000489789.1:n.777+1G>T
ENST00000636160.1:c.*990+1G>T	ENSP00000489651.1:n.*990+1G>T
ENST00000636171.1:c.1041+1G>T	ENSP00000489761.1:n.1041+1G>T
ENST00000636455.1:c.1022+1G>T	ENSP00000490502.1:n.1022+1G>T
ENST00000636494.1:c.*878+1G>T	ENSP00000490388.1:n.*878+1G>T
ENST00000636563.1:n.760+1G>T
ENST00000636577.1:c.1038+1G>T	ENSP00000490027.1:n.1038+1G>T
ENST00000636691.1:c.903+1G>T	ENSP00000490725.1:n.903+1G>T
ENST00000636701.1:c.*749+1G>T	ENSP00000489800.1:n.*749+1G>T
ENST00000636815.1:c.1015+1G>T
ENST00000636920.1:c.*934+1G>T	ENSP00000490437.1:n.*934+1G>T
ENST00000636997.1:c.1011+1G>T	ENSP00000490093.1:n.1011+1G>T
ENST00000637013.1:c.*1466+1G>T	ENSP00000490596.1:n.*1466+1G>T
ENST00000637014.1:n.1505+1G>T
ENST00000637095.1:c.*878+1G>T	ENSP00000490415.1:n.*878+1G>T
ENST00000637244.1:c.*1616+1G>T	ENSP00000490188.1:n.*1616+1G>T
ENST00000637343.1:n.2535+1G>T
ENST00000637429.1:c.*1310+1G>T	ENSP00000490522.1:n.*1310+1G>T
ENST00000637484.1:c.*1060+1G>T	ENSP00000490837.1:n.*1060+1G>T
ENST00000637528.1:c.1035+1G>T	ENSP00000490801.1:n.1035+1G>T
ENST00000637609.1:n.3819+1G>T
ENST00000637636.1:c.1092+1G>T	ENSP00000490112.1:n.1092+1G>T
ENST00000637752.1:n.330G>T
ENST00000637857.1:n.1464+1G>T
ENST00000637922.1:c.903+1G>T	ENSP00000490071.1:n.903+1G>T
ENST00000637991.1:c.1071+1G>T	ENSP00000489901.1:n.1071+1G>T
ENST00000638028.1:n.1315+1G>T
ENST00000638069.1:n.1919+1G>T
XM_005273504.2:c.1032+1G>T	XP_005273561.1:n.1032+1G>T
XM_005273504.3:c.1032+1G>T	XP_005273561.1:n.1032+1G>T