Canonical Allele Identifier: CA4277140

Gene: ASL

Linked Data

• dbSNP Id: rs765601012
• ExAC: 7:65553951 T / G
• gnomAD v2: 7-65553951-T-G
• gnomAD v3: 7-66088964-T-G
• gnomAD v4: 7-66088964-T-G
• MyVariant Identifiers: chr7:g.65553951T>G (hg19) ; chr7:g.66088964T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088964T>G , CM000669.2:g.66088964T>G	GRCh38
NC_000007.13:g.65553951T>G , CM000669.1:g.65553951T>G	GRCh37
NC_000007.12:g.65191386T>G	NCBI36
NG_009288.1:g.18176T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.833+43T>G MANE Select	ENSP00000307188.9:n.833+43T>G
ENST00000362000.10:c.638+43T>G	ENSP00000354710.6:n.638+43T>G
ENST00000380839.9:c.755+43T>G	ENSP00000370219.4:n.755+43T>G
ENST00000395331.4:c.833+43T>G	ENSP00000378740.3:n.833+43T>G
ENST00000395332.8:c.833+43T>G	ENSP00000378741.3:n.833+43T>G
ENST00000488343.2:c.2+43T>G	ENSP00000500864.1:n.2+43T>G
ENST00000671817.1:c.755+43T>G	ENSP00000500462.1:n.755+43T>G
ENST00000672498.1:c.*132+43T>G	ENSP00000500227.1:n.*132+43T>G
ENST00000672586.1:n.1592+43T>G
ENST00000672676.1:n.1857+43T>G
ENST00000673149.1:n.645+43T>G
ENST00000673350.1:n.2950+43T>G
ENST00000673518.1:c.755+43T>G	ENSP00000499889.1:n.755+43T>G
ENST00000304874.13:c.833+43T>G	ENSP00000307188.9:n.833+43T>G
ENST00000362000.9:c.638+43T>G	ENSP00000354710.5:n.638+43T>G
ENST00000380839.8:c.755+43T>G	ENSP00000370219.4:n.755+43T>G
ENST00000395331.3:c.833+43T>G	ENSP00000378740.3:n.833+43T>G
ENST00000395332.7:c.833+43T>G	ENSP00000378741.3:n.833+43T>G
ENST00000450043.2:c.146+43T>G	ENSP00000396527.2:n.146+43T>G
ENST00000493708.5:n.214+43T>G
NM_000048.3:c.833+43T>G	NP_000039.2:n.833+43T>G
NM_001024943.1:c.833+43T>G	NP_001020114.1:n.833+43T>G
NM_001024944.1:c.833+43T>G	NP_001020115.1:n.833+43T>G
NM_001024946.1:c.755+43T>G	NP_001020117.1:n.755+43T>G
NM_000048.4:c.833+43T>G MANE Select	NP_000039.2:n.833+43T>G
NM_001024943.2:c.833+43T>G	NP_001020114.1:n.833+43T>G
NM_001024944.2:c.833+43T>G	NP_001020115.1:n.833+43T>G
NM_001024946.2:c.755+43T>G	NP_001020117.1:n.755+43T>G