Canonical Allele Identifier: CA2683086737

Gene: ASL

Linked Data

• gnomAD v4: 7-66092193-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092193T>C , CM000669.2:g.66092193T>C	GRCh38
NC_000007.13:g.65557180T>C , CM000669.1:g.65557180T>C	GRCh37
NC_000007.12:g.65194615T>C	NCBI36
NG_009288.1:g.21405T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1143+107T>C MANE Select	ENSP00000307188.9:n.1143+107T>C
ENST00000362000.10:c.948+107T>C	ENSP00000354710.6:n.948+107T>C
ENST00000380839.9:c.1065+107T>C	ENSP00000370219.4:n.1065+107T>C
ENST00000395331.4:c.1083+107T>C	ENSP00000378740.3:n.1083+107T>C
ENST00000395332.8:c.1143+107T>C	ENSP00000378741.3:n.1143+107T>C
ENST00000488343.2:c.148-711T>C	ENSP00000500864.1:n.148-711T>C
ENST00000672498.1:c.*442+107T>C	ENSP00000500227.1:n.*442+107T>C
ENST00000672586.1:n.1902+107T>C
ENST00000672676.1:n.2167+107T>C
ENST00000673149.1:n.955+107T>C
ENST00000673350.1:n.3260+107T>C
ENST00000673518.1:c.1065+107T>C	ENSP00000499889.1:n.1065+107T>C
ENST00000304874.13:c.1143+107T>C	ENSP00000307188.9:n.1143+107T>C
ENST00000380839.8:c.1065+107T>C	ENSP00000370219.4:n.1065+107T>C
ENST00000395331.3:c.1083+107T>C	ENSP00000378740.3:n.1083+107T>C
ENST00000395332.7:c.1143+107T>C	ENSP00000378741.3:n.1143+107T>C
ENST00000450043.2:c.456+107T>C	ENSP00000396527.2:n.456+107T>C
ENST00000464970.1:n.346+107T>C
ENST00000488343.1:n.148-711T>C
ENST00000493708.5:n.624+107T>C
NM_000048.3:c.1143+107T>C	NP_000039.2:n.1143+107T>C
NM_001024943.1:c.1143+107T>C	NP_001020114.1:n.1143+107T>C
NM_001024944.1:c.1083+107T>C	NP_001020115.1:n.1083+107T>C
NM_001024946.1:c.1065+107T>C	NP_001020117.1:n.1065+107T>C
NM_000048.4:c.1143+107T>C MANE Select	NP_000039.2:n.1143+107T>C
NM_001024943.2:c.1143+107T>C	NP_001020114.1:n.1143+107T>C
NM_001024944.2:c.1083+107T>C	NP_001020115.1:n.1083+107T>C
NM_001024946.2:c.1065+107T>C	NP_001020117.1:n.1065+107T>C