Canonical Allele Identifier: CA4196022
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs754599509
ExAC: 7:27135365 C / A
gnomAD v2: 7-27135365-C-A
gnomAD v4: 7-27095746-C-A
MyVariant Identifiers: chr7:g.27135365C>A (hg19) chr7:g.27095746C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095746C>A , CM000669.2:g.27095746C>A GRCh38
NC_000007.13:g.27135365C>A , CM000669.1:g.27135365C>A GRCh37
NC_000007.12:g.27101890C>A NCBI36
NG_011813.1:g.5261G>T
NG_033087.1:g.4653C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.167G>T MANE Select ENSP00000494260.2:p.Gly56Val
ENST00000343060.4:c.167G>T ENSP00000343246.4:p.Gly56Val
ENST00000355633.5:c.167G>T ENSP00000347851.5:p.Gly56Val
NM_005522.4:c.167G>T NP_005513.1:p.Gly56Val
NM_153620.2:c.167G>T NP_705873.2:p.Gly56Val
NM_005522.5:c.167G>T MANE Select NP_005513.2:p.Gly56Val
NM_153620.3:c.167G>T NP_705873.3:p.Gly56Val
Search 100 bp 5'
Search 100 bp 3'