Canonical Allele Identifier: CA574858929

Gene: ASL

Linked Data

• ClinVar Variation Id: 2806857
• ClinVar RCV Id: RCV003604110
• dbSNP Id: rs1402079158
• gnomAD v2: 7-65551717-C-T
• gnomAD v3: 7-66086730-C-T
• gnomAD v4: 7-66086730-C-T
• MyVariant Identifiers: chr7:g.65551717C>T (hg19) ; chr7:g.66086730C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086730C>T , CM000669.2:g.66086730C>T	GRCh38
NC_000007.13:g.65551717C>T , CM000669.1:g.65551717C>T	GRCh37
NC_000007.12:g.65189152C>T	NCBI36
NG_009288.1:g.15942C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.525-14C>T MANE Select	ENSP00000307188.9:n.525-14C>T
ENST00000362000.10:c.330-14C>T	ENSP00000354710.6:n.330-14C>T
ENST00000380839.9:c.524+68C>T	ENSP00000370219.4:n.524+68C>T
ENST00000395331.4:c.525-14C>T	ENSP00000378740.3:n.525-14C>T
ENST00000395332.8:c.525-14C>T	ENSP00000378741.3:n.525-14C>T
ENST00000671817.1:c.524+68C>T	ENSP00000500462.1:n.524+68C>T
ENST00000672498.1:c.447-999C>T	ENSP00000500227.1:n.447-999C>T
ENST00000672586.1:n.430-14C>T
ENST00000672676.1:n.695-14C>T
ENST00000673149.1:n.337-14C>T
ENST00000673350.1:n.773-14C>T
ENST00000673518.1:c.524+68C>T	ENSP00000499889.1:n.524+68C>T
ENST00000673594.1:n.374-14C>T
ENST00000304874.13:c.525-14C>T	ENSP00000307188.9:n.525-14C>T
ENST00000362000.9:c.330-14C>T	ENSP00000354710.5:n.330-14C>T
ENST00000380839.8:c.524+68C>T	ENSP00000370219.4:n.524+68C>T
ENST00000395331.3:c.525-14C>T	ENSP00000378740.3:n.525-14C>T
ENST00000395332.7:c.525-14C>T	ENSP00000378741.3:n.525-14C>T
ENST00000487982.5:n.591-14C>T
NM_000048.3:c.525-14C>T	NP_000039.2:n.525-14C>T
NM_001024943.1:c.525-14C>T	NP_001020114.1:n.525-14C>T
NM_001024944.1:c.525-14C>T	NP_001020115.1:n.525-14C>T
NM_001024946.1:c.524+68C>T	NP_001020117.1:n.524+68C>T
NM_000048.4:c.525-14C>T MANE Select	NP_000039.2:n.525-14C>T
NM_001024943.2:c.525-14C>T	NP_001020114.1:n.525-14C>T
NM_001024944.2:c.525-14C>T	NP_001020115.1:n.525-14C>T
NM_001024946.2:c.524+68C>T	NP_001020117.1:n.524+68C>T