Canonical Allele Identifier: CA4276926

Gene: ASL

Linked Data

• dbSNP Id: rs565639144
• ExAC: 7:65548020 A / G
• gnomAD v2: 7-65548020-A-G
• gnomAD v3: 7-66083033-A-G
• gnomAD v4: 7-66083033-A-G
• MyVariant Identifiers: chr7:g.65548020A>G (hg19) ; chr7:g.66083033A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66083033A>G , CM000669.2:g.66083033A>G	GRCh38
NC_000007.13:g.65548020A>G , CM000669.1:g.65548020A>G	GRCh37
NC_000007.12:g.65185455A>G	NCBI36
NG_009288.1:g.12245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.349-44A>G MANE Select	ENSP00000307188.9:n.349-44A>G
ENST00000362000.10:c.154-44A>G	ENSP00000354710.6:n.154-44A>G
ENST00000380839.9:c.349-44A>G	ENSP00000370219.4:n.349-44A>G
ENST00000395331.4:c.349-44A>G	ENSP00000378740.3:n.349-44A>G
ENST00000395332.8:c.349-44A>G	ENSP00000378741.3:n.349-44A>G
ENST00000671817.1:c.349-44A>G	ENSP00000500462.1:n.349-44A>G
ENST00000672498.1:c.349-44A>G	ENSP00000500227.1:n.349-44A>G
ENST00000672586.1:n.254-44A>G
ENST00000672676.1:n.519-44A>G
ENST00000673149.1:n.161-44A>G
ENST00000673350.1:n.597-44A>G
ENST00000673518.1:c.349-44A>G	ENSP00000499889.1:n.349-44A>G
ENST00000673594.1:n.198-44A>G
ENST00000304874.13:c.349-44A>G	ENSP00000307188.9:n.349-44A>G
ENST00000362000.9:c.154-44A>G	ENSP00000354710.5:n.154-44A>G
ENST00000380839.8:c.349-44A>G	ENSP00000370219.4:n.349-44A>G
ENST00000395331.3:c.349-44A>G	ENSP00000378740.3:n.349-44A>G
ENST00000395332.7:c.349-44A>G	ENSP00000378741.3:n.349-44A>G
ENST00000487982.5:n.415-44A>G
ENST00000496336.1:n.686A>G
NM_000048.3:c.349-44A>G	NP_000039.2:n.349-44A>G
NM_001024943.1:c.349-44A>G	NP_001020114.1:n.349-44A>G
NM_001024944.1:c.349-44A>G	NP_001020115.1:n.349-44A>G
NM_001024946.1:c.349-44A>G	NP_001020117.1:n.349-44A>G
NM_000048.4:c.349-44A>G MANE Select	NP_000039.2:n.349-44A>G
NM_001024943.2:c.349-44A>G	NP_001020114.1:n.349-44A>G
NM_001024944.2:c.349-44A>G	NP_001020115.1:n.349-44A>G
NM_001024946.2:c.349-44A>G	NP_001020117.1:n.349-44A>G