Canonical Allele Identifier: CA159942028

Gene: ASL

Linked Data

• dbSNP Id: rs575512953
• gnomAD v3: 7-66092169-C-T
• gnomAD v4: 7-66092169-C-T
• MyVariant Identifiers: chr7:g.65557156C>T (hg19) ; chr7:g.66092169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092169C>T , CM000669.2:g.66092169C>T	GRCh38
NC_000007.13:g.65557156C>T , CM000669.1:g.65557156C>T	GRCh37
NC_000007.12:g.65194591C>T	NCBI36
NG_009288.1:g.21381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1143+83C>T MANE Select	ENSP00000307188.9:n.1143+83C>T
ENST00000362000.10:c.948+83C>T	ENSP00000354710.6:n.948+83C>T
ENST00000380839.9:c.1065+83C>T	ENSP00000370219.4:n.1065+83C>T
ENST00000395331.4:c.1083+83C>T	ENSP00000378740.3:n.1083+83C>T
ENST00000395332.8:c.1143+83C>T	ENSP00000378741.3:n.1143+83C>T
ENST00000488343.2:c.148-735C>T	ENSP00000500864.1:n.148-735C>T
ENST00000672498.1:c.*442+83C>T	ENSP00000500227.1:n.*442+83C>T
ENST00000672586.1:n.1902+83C>T
ENST00000672676.1:n.2167+83C>T
ENST00000673149.1:n.955+83C>T
ENST00000673350.1:n.3260+83C>T
ENST00000673518.1:c.1065+83C>T	ENSP00000499889.1:n.1065+83C>T
ENST00000304874.13:c.1143+83C>T	ENSP00000307188.9:n.1143+83C>T
ENST00000380839.8:c.1065+83C>T	ENSP00000370219.4:n.1065+83C>T
ENST00000395331.3:c.1083+83C>T	ENSP00000378740.3:n.1083+83C>T
ENST00000395332.7:c.1143+83C>T	ENSP00000378741.3:n.1143+83C>T
ENST00000450043.2:c.456+83C>T	ENSP00000396527.2:n.456+83C>T
ENST00000464970.1:n.346+83C>T
ENST00000488343.1:n.148-735C>T
ENST00000493708.5:n.624+83C>T
NM_000048.3:c.1143+83C>T	NP_000039.2:n.1143+83C>T
NM_001024943.1:c.1143+83C>T	NP_001020114.1:n.1143+83C>T
NM_001024944.1:c.1083+83C>T	NP_001020115.1:n.1083+83C>T
NM_001024946.1:c.1065+83C>T	NP_001020117.1:n.1065+83C>T
NM_000048.4:c.1143+83C>T MANE Select	NP_000039.2:n.1143+83C>T
NM_001024943.2:c.1143+83C>T	NP_001020114.1:n.1143+83C>T
NM_001024944.2:c.1083+83C>T	NP_001020115.1:n.1083+83C>T
NM_001024946.2:c.1065+83C>T	NP_001020117.1:n.1065+83C>T