Canonical Allele Identifier: CA4195990

Gene: HOXA1

Linked Data

• dbSNP Id: rs781331719
• ExAC: 7:27135313 G / A
• gnomAD v2: 7-27135313-G-A
• gnomAD v4: 7-27095694-G-A
• MyVariant Identifiers: chr7:g.27135313G>A (hg19) ; chr7:g.27135313_27135316delinsACGA (hg19) ; chr7:g.27095694G>A (hg38) ; chr7:g.27095694_27095697delinsACGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095694G>A , CM000669.2:g.27095694G>A	GRCh38
NC_000007.13:g.27135313G>A , CM000669.1:g.27135313G>A	GRCh37
NC_000007.12:g.27101838G>A	NCBI36
NG_011813.1:g.5313C>T
NG_033087.1:g.4601G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000643460.2:c.219C>T MANE Select	ENSP00000494260.2:p.Arg73=
ENST00000343060.4:c.219C>T	ENSP00000343246.4:p.Arg73=
ENST00000355633.5:c.219C>T	ENSP00000347851.5:p.Arg73=
NM_005522.4:c.219C>T	NP_005513.1:p.His73=
NM_153620.2:c.219C>T	NP_705873.2:p.His73=
NM_005522.5:c.219C>T MANE Select	NP_005513.2:p.Arg73=
NM_153620.3:c.219C>T	NP_705873.3:p.Arg73=