Canonical Allele Identifier: CA4195957

Gene: HOXA1

Linked Data

• dbSNP Id: rs752885733
• ExAC: 7:27135163 G / A
• gnomAD v2: 7-27135163-G-A
• gnomAD v4: 7-27095544-G-A
• MyVariant Identifiers: chr7:g.27135163G>A (hg19) ; chr7:g.27095544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095544G>A , CM000669.2:g.27095544G>A	GRCh38
NC_000007.13:g.27135163G>A , CM000669.1:g.27135163G>A	GRCh37
NC_000007.12:g.27101688G>A	NCBI36
NG_011813.1:g.5463C>T
NG_033087.1:g.4451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643460.2:c.369C>T MANE Select	ENSP00000494260.2:p.Tyr123=
ENST00000343060.4:c.369C>T	ENSP00000343246.4:p.Tyr123=
ENST00000355633.5:c.354+15C>T	ENSP00000347851.5:n.354+15C>T
NM_005522.4:c.369C>T	NP_005513.1:p.Tyr123=
NM_153620.2:c.354+15C>T	NP_705873.2:n.354+15C>T
NM_005522.5:c.369C>T MANE Select	NP_005513.2:p.Tyr123=
NM_153620.3:c.354+15C>T	NP_705873.3:n.354+15C>T