Canonical Allele Identifier: CA2683084971

Gene: ASL

Linked Data

• gnomAD v4: 7-66086827-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086827T>C , CM000669.2:g.66086827T>C	GRCh38
NC_000007.13:g.65551814T>C , CM000669.1:g.65551814T>C	GRCh37
NC_000007.12:g.65189249T>C	NCBI36
NG_009288.1:g.16039T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.602+6T>C MANE Select	ENSP00000307188.9:n.602+6T>C
ENST00000362000.10:c.407+6T>C	ENSP00000354710.6:n.407+6T>C
ENST00000380839.9:c.524+165T>C	ENSP00000370219.4:n.524+165T>C
ENST00000395331.4:c.602+6T>C	ENSP00000378740.3:n.602+6T>C
ENST00000395332.8:c.602+6T>C	ENSP00000378741.3:n.602+6T>C
ENST00000671817.1:c.524+165T>C	ENSP00000500462.1:n.524+165T>C
ENST00000672498.1:c.447-902T>C	ENSP00000500227.1:n.447-902T>C
ENST00000672586.1:n.513T>C
ENST00000672676.1:n.778T>C
ENST00000673149.1:n.414+6T>C
ENST00000673350.1:n.856T>C
ENST00000673518.1:c.524+165T>C	ENSP00000499889.1:n.524+165T>C
ENST00000673594.1:n.451+6T>C
ENST00000304874.13:c.602+6T>C	ENSP00000307188.9:n.602+6T>C
ENST00000362000.9:c.407+6T>C	ENSP00000354710.5:n.407+6T>C
ENST00000380839.8:c.524+165T>C	ENSP00000370219.4:n.524+165T>C
ENST00000395331.3:c.602+6T>C	ENSP00000378740.3:n.602+6T>C
ENST00000395332.7:c.602+6T>C	ENSP00000378741.3:n.602+6T>C
ENST00000487982.5:n.674T>C
NM_000048.3:c.602+6T>C	NP_000039.2:n.602+6T>C
NM_001024943.1:c.602+6T>C	NP_001020114.1:n.602+6T>C
NM_001024944.1:c.602+6T>C	NP_001020115.1:n.602+6T>C
NM_001024946.1:c.524+165T>C	NP_001020117.1:n.524+165T>C
NM_000048.4:c.602+6T>C MANE Select	NP_000039.2:n.602+6T>C
NM_001024943.2:c.602+6T>C	NP_001020114.1:n.602+6T>C
NM_001024944.2:c.602+6T>C	NP_001020115.1:n.602+6T>C
NM_001024946.2:c.524+165T>C	NP_001020117.1:n.524+165T>C