Canonical Allele Identifier: CA367639268

Gene: ASL

Linked Data

• gnomAD v4: 7-66083077-G-C
• MyVariant Identifiers: chr7:g.65548064G>C (hg19) ; chr7:g.66083077G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66083077G>C , CM000669.2:g.66083077G>C	GRCh38
NC_000007.13:g.65548064G>C , CM000669.1:g.65548064G>C	GRCh37
NC_000007.12:g.65185499G>C	NCBI36
NG_009288.1:g.12289G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.349G>C MANE Select	ENSP00000307188.9:p.Val117Leu
ENST00000362000.10:c.154G>C	ENSP00000354710.6:p.Val52Leu
ENST00000380839.9:c.349G>C	ENSP00000370219.4:p.Val117Leu
ENST00000395331.4:c.349G>C	ENSP00000378740.3:p.Val117Leu
ENST00000395332.8:c.349G>C	ENSP00000378741.3:p.Val117Leu
ENST00000671817.1:c.349G>C	ENSP00000500462.1:p.Val117Leu
ENST00000672498.1:c.349G>C	ENSP00000500227.1:p.Val117Leu
ENST00000672586.1:n.254G>C
ENST00000672676.1:n.519G>C
ENST00000673149.1:n.161G>C
ENST00000673350.1:n.597G>C
ENST00000673518.1:c.349G>C	ENSP00000499889.1:p.Val117Leu
ENST00000673594.1:n.198G>C
ENST00000304874.13:c.349G>C	ENSP00000307188.9:p.Val117Leu
ENST00000362000.9:c.154G>C	ENSP00000354710.5:p.Val52Leu
ENST00000380839.8:c.349G>C	ENSP00000370219.4:p.Val117Leu
ENST00000395331.3:c.349G>C	ENSP00000378740.3:p.Val117Leu
ENST00000395332.7:c.349G>C	ENSP00000378741.3:p.Val117Leu
ENST00000487982.5:n.415G>C
ENST00000496336.1:n.730G>C
NM_000048.3:c.349G>C	NP_000039.2:p.Val117Leu
NM_001024943.1:c.349G>C	NP_001020114.1:p.Val117Leu
NM_001024944.1:c.349G>C	NP_001020115.1:p.Val117Leu
NM_001024946.1:c.349G>C	NP_001020117.1:p.Val117Leu
NM_000048.4:c.349G>C MANE Select	NP_000039.2:p.Val117Leu
NM_001024943.2:c.349G>C	NP_001020114.1:p.Val117Leu
NM_001024944.2:c.349G>C	NP_001020115.1:p.Val117Leu
NM_001024946.2:c.349G>C	NP_001020117.1:p.Val117Leu