Canonical Allele Identifier: CA367651104

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65557559G>A (hg19) ; chr7:g.66092572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092572G>A , CM000669.2:g.66092572G>A	GRCh38
NC_000007.13:g.65557559G>A , CM000669.1:g.65557559G>A	GRCh37
NC_000007.12:g.65194994G>A	NCBI36
NG_009288.1:g.21784G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1159G>A MANE Select	ENSP00000307188.9:p.Ala387Thr
ENST00000362000.10:c.964G>A	ENSP00000354710.6:p.Ala322Thr
ENST00000380839.9:c.1081G>A	ENSP00000370219.4:p.Ala361Thr
ENST00000395331.4:c.1099G>A	ENSP00000378740.3:p.Ala367Thr
ENST00000395332.8:c.1159G>A	ENSP00000378741.3:p.Ala387Thr
ENST00000488343.2:c.148-332G>A	ENSP00000500864.1:n.148-332G>A
ENST00000672498.1:c.*458G>A	ENSP00000500227.1:n.*458G>A
ENST00000672586.1:n.1918G>A
ENST00000672676.1:n.2183G>A
ENST00000673149.1:n.971G>A
ENST00000673350.1:n.3276G>A
ENST00000673518.1:c.1081G>A	ENSP00000499889.1:p.Ala361Thr
ENST00000304874.13:c.1159G>A	ENSP00000307188.9:p.Ala387Thr
ENST00000380839.8:c.1081G>A	ENSP00000370219.4:p.Ala361Thr
ENST00000395331.3:c.1099G>A	ENSP00000378740.3:p.Ala367Thr
ENST00000395332.7:c.1159G>A	ENSP00000378741.3:p.Ala387Thr
ENST00000450043.2:c.472G>A	ENSP00000396527.2:p.Ala158Thr
ENST00000464970.1:n.362G>A
ENST00000488343.1:n.148-332G>A
ENST00000493708.5:n.640G>A
NM_000048.3:c.1159G>A	NP_000039.2:p.Ala387Thr
NM_001024943.1:c.1159G>A	NP_001020114.1:p.Ala387Thr
NM_001024944.1:c.1099G>A	NP_001020115.1:p.Ala367Thr
NM_001024946.1:c.1081G>A	NP_001020117.1:p.Ala361Thr
NM_000048.4:c.1159G>A MANE Select	NP_000039.2:p.Ala387Thr
NM_001024943.2:c.1159G>A	NP_001020114.1:p.Ala387Thr
NM_001024944.2:c.1099G>A	NP_001020115.1:p.Ala367Thr
NM_001024946.2:c.1081G>A	NP_001020117.1:p.Ala361Thr