Canonical Allele Identifier: CA200322

Gene: HOXD13

Linked Data

• ClinVar Variation Id: 193107
• ClinVar RCV Id: RCV000173147 ; RCV001711461 ; RCV001701775 ; RCV001701774 ; RCV001701695 ; RCV001701539
• dbSNP Id: rs2518053
• ExAC: 2:176957822 G / A
• gnomAD v2: 2-176957822-G-A
• gnomAD v3: 2-176093094-G-A
• gnomAD v4: 2-176093094-G-A
• MyVariant Identifiers: chr2:g.176957822G>A (hg19) ; chr2:g.176093094G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.176093094G>A , CM000664.2:g.176093094G>A	GRCh38
NC_000002.11:g.176957822G>A , CM000664.1:g.176957822G>A	GRCh37
NC_000002.10:g.176666068G>A	NCBI36
NG_008137.1:g.5291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392539.4:c.204G>A MANE Select	ENSP00000376322.3:p.Ala68=
ENST00000392539.3:c.204G>A	ENSP00000376322.3:p.Ala68=
NM_000523.3:c.204G>A	NP_000514.2:p.Ala68=
XM_011511068.1:c.725-1386G>A	XP_011509370.1:n.725-1386G>A
XM_011511068.2:c.725-1386G>A	XP_011509370.1:n.725-1386G>A
NM_000523.4:c.204G>A MANE Select	NP_000514.2:p.Ala68=