Canonical Allele Identifier: CA367069133
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs1204382681
gnomAD v2: 7-27135303-G-A
gnomAD v4: 7-27095684-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095684G>A , CM000669.2:g.27095684G>A GRCh38
NC_000007.13:g.27135303G>A , CM000669.1:g.27135303G>A GRCh37
NC_000007.12:g.27101828G>A NCBI36
NG_011813.1:g.5323C>T
NG_033087.1:g.4591G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643460.2:c.229C>T MANE Select ENSP00000494260.2:p.Pro77Ser
ENST00000343060.4:c.229C>T ENSP00000343246.4:p.Pro77Ser
ENST00000355633.5:c.229C>T ENSP00000347851.5:p.Pro77Ser
NM_005522.4:c.229C>T NP_005513.1:p.Pro77Ser
NM_153620.2:c.229C>T NP_705873.2:p.Pro77Ser
NM_005522.5:c.229C>T MANE Select NP_005513.2:p.Pro77Ser
NM_153620.3:c.229C>T NP_705873.3:p.Pro77Ser