Canonical Allele Identifier: CA4195978
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs751466974
gnomAD v2: 7-27135299-G-A
gnomAD v3: 7-27095680-G-A
gnomAD v4: 7-27095680-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095680G>A , CM000669.2:g.27095680G>A GRCh38
NC_000007.13:g.27135299G>A , CM000669.1:g.27135299G>A GRCh37
NC_000007.12:g.27101824G>A NCBI36
NG_011813.1:g.5327C>T
NG_033087.1:g.4587G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.233C>T MANE Select ENSP00000494260.2:p.Ala78Val
ENST00000343060.4:c.233C>T ENSP00000343246.4:p.Ala78Val
ENST00000355633.5:c.233C>T ENSP00000347851.5:p.Ala78Val
NM_005522.4:c.233C>T NP_005513.1:p.Ala78Val
NM_153620.2:c.233C>T NP_705873.2:p.Ala78Val
NM_005522.5:c.233C>T MANE Select NP_005513.2:p.Ala78Val
NM_153620.3:c.233C>T NP_705873.3:p.Ala78Val