Canonical Allele Identifier: CA4195916

Gene: HOXA1

Linked Data

• ClinVar Variation Id: 359958
• ClinVar RCV Id: RCV000375444 ; RCV000876173 ; RCV001252526 ; RCV002311427
• dbSNP Id: rs17500494
• ExAC: 7:27134966 T / G
• gnomAD v2: 7-27134966-T-G
• gnomAD v3: 7-27095347-T-G
• gnomAD v4: 7-27095347-T-G
• MyVariant Identifiers: chr7:g.27134966T>G (hg19) ; chr7:g.27095347T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095347T>G , CM000669.2:g.27095347T>G	GRCh38
NC_000007.13:g.27134966T>G , CM000669.1:g.27134966T>G	GRCh37
NC_000007.12:g.27101491T>G	NCBI36
NG_011813.1:g.5660A>C
NG_033087.1:g.4254T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643460.2:c.566A>C MANE Select	ENSP00000494260.2:p.Glu189Ala
ENST00000343060.4:c.566A>C	ENSP00000343246.4:p.Glu189Ala
ENST00000355633.5:c.363A>C	ENSP00000347851.5:p.Arg121Ser
NM_005522.4:c.566A>C	NP_005513.1:p.Glu189Ala
NM_153620.2:c.363A>C	NP_705873.2:p.Arg121Ser
NM_005522.5:c.566A>C MANE Select	NP_005513.2:p.Glu189Ala
NM_153620.3:c.363A>C	NP_705873.3:p.Arg121Ser