Canonical Allele Identifier: CA2683086838

Gene: ASL

Linked Data

• gnomAD v4: 7-66088773-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088773G>T , CM000669.2:g.66088773G>T	GRCh38
NC_000007.13:g.65553760G>T , CM000669.1:g.65553760G>T	GRCh37
NC_000007.12:g.65191195G>T	NCBI36
NG_009288.1:g.17985G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.719-34G>T MANE Select	ENSP00000307188.9:n.719-34G>T
ENST00000362000.10:c.524-34G>T	ENSP00000354710.6:n.524-34G>T
ENST00000380839.9:c.641-34G>T	ENSP00000370219.4:n.641-34G>T
ENST00000395331.4:c.719-34G>T	ENSP00000378740.3:n.719-34G>T
ENST00000395332.8:c.719-34G>T	ENSP00000378741.3:n.719-34G>T
ENST00000671817.1:c.641-34G>T	ENSP00000500462.1:n.641-34G>T
ENST00000672498.1:c.*18-34G>T	ENSP00000500227.1:n.*18-34G>T
ENST00000672586.1:n.1478-34G>T
ENST00000672676.1:n.1743-34G>T
ENST00000673149.1:n.531-34G>T
ENST00000673350.1:n.2802G>T
ENST00000673518.1:c.641-34G>T	ENSP00000499889.1:n.641-34G>T
ENST00000304874.13:c.719-34G>T	ENSP00000307188.9:n.719-34G>T
ENST00000362000.9:c.524-34G>T	ENSP00000354710.5:n.524-34G>T
ENST00000380839.8:c.641-34G>T	ENSP00000370219.4:n.641-34G>T
ENST00000395331.3:c.719-34G>T	ENSP00000378740.3:n.719-34G>T
ENST00000395332.7:c.719-34G>T	ENSP00000378741.3:n.719-34G>T
ENST00000450043.2:c.32-34G>T	ENSP00000396527.2:n.32-34G>T
ENST00000493708.5:n.100-34G>T
NM_000048.3:c.719-34G>T	NP_000039.2:n.719-34G>T
NM_001024943.1:c.719-34G>T	NP_001020114.1:n.719-34G>T
NM_001024944.1:c.719-34G>T	NP_001020115.1:n.719-34G>T
NM_001024946.1:c.641-34G>T	NP_001020117.1:n.641-34G>T
NM_000048.4:c.719-34G>T MANE Select	NP_000039.2:n.719-34G>T
NM_001024943.2:c.719-34G>T	NP_001020114.1:n.719-34G>T
NM_001024944.2:c.719-34G>T	NP_001020115.1:n.719-34G>T
NM_001024946.2:c.641-34G>T	NP_001020117.1:n.641-34G>T