Canonical Allele Identifier: CA367068484

Gene: HOXA1

Linked Data

• dbSNP Id: rs1342246463
• gnomAD v2: 7-27135054-T-C
• gnomAD v4: 7-27095435-T-C
• MyVariant Identifiers: chr7:g.27135054T>C (hg19) ; chr7:g.27095435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095435T>C , CM000669.2:g.27095435T>C	GRCh38
NC_000007.13:g.27135054T>C , CM000669.1:g.27135054T>C	GRCh37
NC_000007.12:g.27101579T>C	NCBI36
NG_011813.1:g.5572A>G
NG_033087.1:g.4342T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643460.2:c.478A>G MANE Select	ENSP00000494260.2:p.Ile160Val
ENST00000343060.4:c.478A>G	ENSP00000343246.4:p.Ile160Val
ENST00000355633.5:c.355-80A>G	ENSP00000347851.5:n.355-80A>G
NM_005522.4:c.478A>G	NP_005513.1:p.Ile160Val
NM_153620.2:c.355-80A>G	NP_705873.2:n.355-80A>G
NM_005522.5:c.478A>G MANE Select	NP_005513.2:p.Ile160Val
NM_153620.3:c.355-80A>G	NP_705873.3:n.355-80A>G