Canonical Allele Identifier: CA159927299

Gene: ASL

Linked Data

• dbSNP Id: rs983867765
• gnomAD v4: 7-66083167-G-T
• MyVariant Identifiers: chr7:g.65548154G>T (hg19) ; chr7:g.66083167G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66083167G>T , CM000669.2:g.66083167G>T	GRCh38
NC_000007.13:g.65548154G>T , CM000669.1:g.65548154G>T	GRCh37
NC_000007.12:g.65185589G>T	NCBI36
NG_009288.1:g.12379G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.439G>T MANE Select	ENSP00000307188.9:p.Ala147Ser
ENST00000362000.10:c.244G>T	ENSP00000354710.6:p.Ala82Ser
ENST00000380839.9:c.439G>T	ENSP00000370219.4:p.Ala147Ser
ENST00000395331.4:c.439G>T	ENSP00000378740.3:p.Ala147Ser
ENST00000395332.8:c.439G>T	ENSP00000378741.3:p.Ala147Ser
ENST00000671817.1:c.439G>T	ENSP00000500462.1:p.Ala147Ser
ENST00000672498.1:c.439G>T	ENSP00000500227.1:p.Ala147Ser
ENST00000672586.1:n.344G>T
ENST00000672676.1:n.609G>T
ENST00000673149.1:n.251G>T
ENST00000673350.1:n.687G>T
ENST00000673518.1:c.439G>T	ENSP00000499889.1:p.Ala147Ser
ENST00000673594.1:n.288G>T
ENST00000304874.13:c.439G>T	ENSP00000307188.9:p.Ala147Ser
ENST00000362000.9:c.244G>T	ENSP00000354710.5:p.Ala82Ser
ENST00000380839.8:c.439G>T	ENSP00000370219.4:p.Ala147Ser
ENST00000395331.3:c.439G>T	ENSP00000378740.3:p.Ala147Ser
ENST00000395332.7:c.439G>T	ENSP00000378741.3:p.Ala147Ser
ENST00000487982.5:n.505G>T
ENST00000496336.1:n.820G>T
NM_000048.3:c.439G>T	NP_000039.2:p.Ala147Ser
NM_001024943.1:c.439G>T	NP_001020114.1:p.Ala147Ser
NM_001024944.1:c.439G>T	NP_001020115.1:p.Ala147Ser
NM_001024946.1:c.439G>T	NP_001020117.1:p.Ala147Ser
NM_000048.4:c.439G>T MANE Select	NP_000039.2:p.Ala147Ser
NM_001024943.2:c.439G>T	NP_001020114.1:p.Ala147Ser
NM_001024944.2:c.439G>T	NP_001020115.1:p.Ala147Ser
NM_001024946.2:c.439G>T	NP_001020117.1:p.Ala147Ser