Canonical Allele Identifier: CA454507554
Gene: HOXA1 HGNC NCBI

Linked Data

gnomAD v4: 7-27095556-T-C
MyVariant Identifiers: chr7:g.27135175T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095556T>C , CM000669.2:g.27095556T>C GRCh38
NC_000007.13:g.27135175T>C , CM000669.1:g.27135175T>C GRCh37
NC_000007.12:g.27101700T>C NCBI36
NG_011813.1:g.5451A>G
NG_033087.1:g.4463T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.357A>G MANE Select ENSP00000494260.2:p.Val119=
ENST00000343060.4:c.357A>G ENSP00000343246.4:p.Val119=
ENST00000355633.5:c.354+3A>G ENSP00000347851.5:n.354+3A>G
NM_005522.4:c.357A>G NP_005513.1:p.Val119=
NM_153620.2:c.354+3A>G NP_705873.2:n.354+3A>G
NM_005522.5:c.357A>G MANE Select NP_005513.2:p.Val119=
NM_153620.3:c.354+3A>G NP_705873.3:n.354+3A>G
Search 100 bp 5'
Search 100 bp 3'