Canonical Allele Identifier: CA159942423

Gene: ASL

Linked Data

• dbSNP Id: rs374176189
• gnomAD v2: 7-65557555-C-T
• gnomAD v4: 7-66092568-C-T
• MyVariant Identifiers: chr7:g.65557555C>T (hg19) ; chr7:g.66092568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092568C>T , CM000669.2:g.66092568C>T	GRCh38
NC_000007.13:g.65557555C>T , CM000669.1:g.65557555C>T	GRCh37
NC_000007.12:g.65194990C>T	NCBI36
NG_009288.1:g.21780C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1155C>T MANE Select	ENSP00000307188.9:p.Arg385=
ENST00000362000.10:c.960C>T	ENSP00000354710.6:p.Arg320=
ENST00000380839.9:c.1077C>T	ENSP00000370219.4:p.Arg359=
ENST00000395331.4:c.1095C>T	ENSP00000378740.3:p.Arg365=
ENST00000395332.8:c.1155C>T	ENSP00000378741.3:p.Arg385=
ENST00000488343.2:c.148-336C>T	ENSP00000500864.1:n.148-336C>T
ENST00000672498.1:c.*454C>T	ENSP00000500227.1:n.*454C>T
ENST00000672586.1:n.1914C>T
ENST00000672676.1:n.2179C>T
ENST00000673149.1:n.967C>T
ENST00000673350.1:n.3272C>T
ENST00000673518.1:c.1077C>T	ENSP00000499889.1:p.Arg359=
ENST00000304874.13:c.1155C>T	ENSP00000307188.9:p.Arg385=
ENST00000380839.8:c.1077C>T	ENSP00000370219.4:p.Arg359=
ENST00000395331.3:c.1095C>T	ENSP00000378740.3:p.Arg365=
ENST00000395332.7:c.1155C>T	ENSP00000378741.3:p.Arg385=
ENST00000450043.2:c.468C>T	ENSP00000396527.2:p.Arg156=
ENST00000464970.1:n.358C>T
ENST00000488343.1:n.148-336C>T
ENST00000493708.5:n.636C>T
NM_000048.3:c.1155C>T	NP_000039.2:p.Arg385=
NM_001024943.1:c.1155C>T	NP_001020114.1:p.Arg385=
NM_001024944.1:c.1095C>T	NP_001020115.1:p.Arg365=
NM_001024946.1:c.1077C>T	NP_001020117.1:p.Arg359=
NM_000048.4:c.1155C>T MANE Select	NP_000039.2:p.Arg385=
NM_001024943.2:c.1155C>T	NP_001020114.1:p.Arg385=
NM_001024944.2:c.1095C>T	NP_001020115.1:p.Arg365=
NM_001024946.2:c.1077C>T	NP_001020117.1:p.Arg359=