Canonical Allele Identifier: CA367069262

Gene: HOXA1

Linked Data

• dbSNP Id: rs1562700046
• gnomAD v4: 7-27095711-G-A
• MyVariant Identifiers: chr7:g.27135330G>A (hg19) ; chr7:g.27095711G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095711G>A , CM000669.2:g.27095711G>A	GRCh38
NC_000007.13:g.27135330G>A , CM000669.1:g.27135330G>A	GRCh37
NC_000007.12:g.27101855G>A	NCBI36
NG_011813.1:g.5296C>T
NG_033087.1:g.4618G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000643460.2:c.202C>T MANE Select	ENSP00000494260.2:p.His68Tyr
ENST00000343060.4:c.202C>T	ENSP00000343246.4:p.His68Tyr
ENST00000355633.5:c.202C>T	ENSP00000347851.5:p.His68Tyr
NM_005522.4:c.202C>T	NP_005513.1:p.His68Tyr
NM_153620.2:c.202C>T	NP_705873.2:p.His68Tyr
NM_005522.5:c.202C>T MANE Select	NP_005513.2:p.His68Tyr
NM_153620.3:c.202C>T	NP_705873.3:p.His68Tyr