Canonical Allele Identifier: CA1976569

Gene: HOXD13

Linked Data

• ClinVar Variation Id: 493303
• ClinVar RCV Id: RCV000584868 ; RCV002483560 ; RCV004553302
• dbSNP Id: rs143487752
• ExAC: 2:176957914 C / G
• gnomAD v2: 2-176957914-C-G
• gnomAD v3: 2-176093186-C-G
• gnomAD v4: 2-176093186-C-G
• MyVariant Identifiers: chr2:g.176957914C>G (hg19) ; chr2:g.176093186C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.176093186C>G , CM000664.2:g.176093186C>G	GRCh38
NC_000002.11:g.176957914C>G , CM000664.1:g.176957914C>G	GRCh37
NC_000002.10:g.176666160C>G	NCBI36
NG_008137.1:g.5383C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392539.4:c.296C>G MANE Select	ENSP00000376322.3:p.Pro99Arg
ENST00000392539.3:c.296C>G	ENSP00000376322.3:p.Pro99Arg
NM_000523.3:c.296C>G	NP_000514.2:p.Pro99Arg
XM_011511068.1:c.725-1294C>G	XP_011509370.1:n.725-1294C>G
XM_011511068.2:c.725-1294C>G	XP_011509370.1:n.725-1294C>G
NM_000523.4:c.296C>G MANE Select	NP_000514.2:p.Pro99Arg