Canonical Allele Identifier: CA4195992

Gene: HOXA1

Linked Data

• dbSNP Id: rs781331719
• ExAC: 7:27135313 G / T
• gnomAD v2: 7-27135313-G-T
• gnomAD v4: 7-27095694-G-T
• MyVariant Identifiers: chr7:g.27135313G>T (hg19) ; chr7:g.27135313_27135316delinsTCGA (hg19) ; chr7:g.27095694G>T (hg38) ; chr7:g.27095694_27095697delinsTCGA (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000643460.2:c.219C>A MANE Select	ENSP00000494260.2:p.Arg73=
ENST00000343060.4:c.219C>A	ENSP00000343246.4:p.Arg73=
ENST00000355633.5:c.219C>A	ENSP00000347851.5:p.Arg73=
NM_005522.4:c.219C>A	NP_005513.1:p.His73Gln
NM_153620.2:c.219C>A	NP_705873.2:p.His73Gln
NM_005522.5:c.219C>A MANE Select	NP_005513.2:p.Arg73=
NM_153620.3:c.219C>A	NP_705873.3:p.Arg73=