Canonical Allele Identifier: CA375263027
Gene: ABL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2604395
ClinVar RCV Id: RCV003366767
dbSNP Id: rs1391451714
gnomAD v2: 9-133738316-G-A
gnomAD v4: 9-130862929-G-A
MyVariant Identifiers: chr9:g.133738316G>A (hg19) chr9:g.130862929G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130862929G>A , CM000671.2:g.130862929G>A GRCh38
NC_000009.11:g.133738316G>A , CM000671.1:g.133738316G>A GRCh37
NC_000009.10:g.132728137G>A NCBI36
NG_012034.1:g.154049G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372348.9:c.773G>A ENSP00000361423.2:p.Arg258His
ENST00000318560.6:c.716G>A MANE Select ENSP00000323315.5:p.Arg239His
ENST00000372348.7:c.773G>A ENSP00000361423.2:p.Arg258His
ENST00000318560.5:c.716G>A ENSP00000323315.5:p.Arg239His
ENST00000372348.6:c.773G>A ENSP00000361423.2:p.Arg258His
NM_005157.5:c.716G>A NP_005148.2:p.Arg239His
NM_007313.2:c.773G>A NP_009297.2:p.Arg258His
NM_005157.6:c.716G>A MANE Select NP_005148.2:p.Arg239His
NM_007313.3:c.773G>A NP_009297.2:p.Arg258His
Search 100 bp 5'
Search 100 bp 3'