Canonical Allele Identifier: CA349353028
Gene: HOXD13 HGNC NCBI

Linked Data

gnomAD v4: 2-176093467-T-C
MyVariant Identifiers: chr2:g.176958195T>C (hg19) chr2:g.176093467T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176093467T>C , CM000664.2:g.176093467T>C GRCh38
NC_000002.11:g.176958195T>C , CM000664.1:g.176958195T>C GRCh37
NC_000002.10:g.176666441T>C NCBI36
NG_008137.1:g.5664T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392539.4:c.577T>C MANE Select ENSP00000376322.3:p.Tyr193His
ENST00000392539.3:c.577T>C ENSP00000376322.3:p.Tyr193His
NM_000523.3:c.577T>C NP_000514.2:p.Tyr193His
XM_011511068.1:c.725-1013T>C XP_011509370.1:n.725-1013T>C
XM_011511068.2:c.725-1013T>C XP_011509370.1:n.725-1013T>C
NM_000523.4:c.577T>C MANE Select NP_000514.2:p.Tyr193His
Search 100 bp 5'
Search 100 bp 3'