Canonical Allele Identifier: CA370429501

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918964A>G (hg19) ; chr8:g.18061455A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061455A>G , CM000670.2:g.18061455A>G	GRCh38
NC_000008.10:g.17918964A>G , CM000670.1:g.17918964A>G	GRCh37
NC_000008.9:g.17963244A>G	NCBI36
NG_008985.1:g.28544T>C
NG_008985.2:g.28544T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.755T>C	ENSP00000371152.4:p.Ile252Thr
ENST00000517409.2:n.675T>C
ENST00000518746.2:n.2393T>C
ENST00000519545.6:n.724T>C
ENST00000520781.6:c.632T>C	ENSP00000427751.1:p.Ile211Thr
ENST00000521542.2:n.15T>C
ENST00000635756.1:c.126-6T>C
ENST00000635944.1:c.*543T>C	ENSP00000490195.1:n.*543T>C
ENST00000635998.1:c.707T>C	ENSP00000490506.1:p.Ile236Thr
ENST00000636009.1:c.564T>C	ENSP00000489988.1:n.564T>C
ENST00000636033.1:c.*543T>C	ENSP00000489617.1:n.*543T>C
ENST00000636050.1:c.*550T>C	ENSP00000490562.1:n.*550T>C
ENST00000636128.1:c.386T>C	ENSP00000489789.1:p.Ile129Thr
ENST00000636160.1:c.*599T>C	ENSP00000489651.1:n.*599T>C
ENST00000636171.1:c.650T>C	ENSP00000489761.1:p.Ile217Thr
ENST00000636455.1:c.755T>C	ENSP00000490502.1:p.Ile252Thr
ENST00000636494.1:c.*487T>C	ENSP00000490388.1:n.*487T>C
ENST00000636563.1:n.369T>C
ENST00000636577.1:c.647T>C	ENSP00000490027.1:p.Ile216Thr
ENST00000636691.1:c.512T>C	ENSP00000490725.1:p.Ile171Thr
ENST00000636701.1:c.*358T>C	ENSP00000489800.1:n.*358T>C
ENST00000636815.1:c.624T>C
ENST00000636920.1:c.*543T>C	ENSP00000490437.1:n.*543T>C
ENST00000636997.1:c.620T>C	ENSP00000490093.1:p.Ile207Thr
ENST00000637013.1:c.*1075T>C	ENSP00000490596.1:n.*1075T>C
ENST00000637014.1:n.1114T>C
ENST00000637095.1:c.*487T>C	ENSP00000490415.1:n.*487T>C
ENST00000637244.1:c.*1225T>C	ENSP00000490188.1:n.*1225T>C
ENST00000637343.1:n.2144T>C
ENST00000637429.1:c.*919T>C	ENSP00000490522.1:n.*919T>C
ENST00000637484.1:c.*669T>C	ENSP00000490837.1:n.*669T>C
ENST00000637528.1:c.644T>C	ENSP00000490801.1:p.Ile215Thr
ENST00000637609.1:n.3428T>C
ENST00000637636.1:c.701T>C	ENSP00000490112.1:p.Ile234Thr
ENST00000637790.2:c.707T>C MANE Select	ENSP00000490272.1:p.Ile236Thr
ENST00000637857.1:n.1073T>C
ENST00000637922.1:c.512T>C	ENSP00000490071.1:p.Ile171Thr
ENST00000637991.1:c.680T>C	ENSP00000489901.1:p.Ile227Thr
ENST00000638028.1:n.924T>C
ENST00000638069.1:n.1528T>C
ENST00000262097.10:c.707T>C	ENSP00000262097.6:p.Ile236Thr
ENST00000314146.10:c.689T>C	ENSP00000326970.10:p.Ile230Thr
ENST00000381733.8:c.755T>C	ENSP00000371152.4:p.Ile252Thr
ENST00000518746.1:n.524T>C
ENST00000519468.5:n.536T>C
ENST00000520781.5:c.632T>C	ENSP00000427751.1:p.Ile211Thr
ENST00000521542.1:n.420T>C
NM_001127505.1:c.689T>C	NP_001120977.1:p.Ile230Thr
NM_001127505.2:c.689T>C	NP_001120977.1:p.Ile230Thr
NM_004315.4:c.755T>C	NP_004306.3:p.Ile252Thr
NM_004315.5:c.755T>C	NP_004306.3:p.Ile252Thr
NM_177924.3:c.707T>C	NP_808592.2:p.Ile236Thr
NM_177924.4:c.707T>C	NP_808592.2:p.Ile236Thr
XM_005273504.2:c.641T>C	XP_005273561.1:p.Ile214Thr
NM_001363743.1:c.512T>C	NP_001350672.1:p.Ile171Thr
XM_005273504.3:c.641T>C	XP_005273561.1:p.Ile214Thr
NM_177924.5:c.707T>C MANE Select	NP_808592.2:p.Ile236Thr
NM_001127505.3:c.689T>C	NP_001120977.1:p.Ile230Thr
NM_001363743.2:c.512T>C	NP_001350672.1:p.Ile171Thr
NM_004315.6:c.755T>C	NP_004306.3:p.Ile252Thr