Canonical Allele Identifier: CA367068442

Gene: HOXA1

Linked Data

• dbSNP Id: rs1365677129
• gnomAD v2: 7-27135035-T-C
• gnomAD v4: 7-27095416-T-C
• MyVariant Identifiers: chr7:g.27135035T>C (hg19) ; chr7:g.27095416T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095416T>C , CM000669.2:g.27095416T>C	GRCh38
NC_000007.13:g.27135035T>C , CM000669.1:g.27135035T>C	GRCh37
NC_000007.12:g.27101560T>C	NCBI36
NG_011813.1:g.5591A>G
NG_033087.1:g.4323T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000643460.2:c.497A>G MANE Select	ENSP00000494260.2:p.Gln166Arg
ENST00000343060.4:c.497A>G	ENSP00000343246.4:p.Gln166Arg
ENST00000355633.5:c.355-61A>G	ENSP00000347851.5:n.355-61A>G
NM_005522.4:c.497A>G	NP_005513.1:p.Gln166Arg
NM_153620.2:c.355-61A>G	NP_705873.2:n.355-61A>G
NM_005522.5:c.497A>G MANE Select	NP_005513.2:p.Gln166Arg
NM_153620.3:c.355-61A>G	NP_705873.3:n.355-61A>G