Canonical Allele Identifier: CA367069196
Gene: HOXA1 HGNC NCBI

Linked Data

dbSNP Id: rs587777901
gnomAD v2: 7-27135317-T-C
gnomAD v3: 7-27095698-T-C
gnomAD v4: 7-27095698-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27095698T>C , CM000669.2:g.27095698T>C GRCh38
NC_000007.13:g.27135317T>C , CM000669.1:g.27135317T>C GRCh37
NC_000007.12:g.27101842T>C NCBI36
NG_011813.1:g.5309A>G
NG_033087.1:g.4605T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000643460.2:c.215A>G MANE Select ENSP00000494260.2:p.His72Arg
ENST00000343060.4:c.215A>G ENSP00000343246.4:p.His72Arg
ENST00000355633.5:c.215A>G ENSP00000347851.5:p.His72Arg
NM_005522.4:c.215A>G NP_005513.1:p.His72Arg
NM_153620.2:c.215A>G NP_705873.2:p.His72Arg
NM_005522.5:c.215A>G MANE Select NP_005513.2:p.His72Arg
NM_153620.3:c.215A>G NP_705873.3:p.His72Arg