Canonical Allele Identifier: CA392377155

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534698C>G (hg19) ; chr15:g.50242501C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242501C>G , CM000677.2:g.50242501C>G	GRCh38
NC_000015.9:g.50534698C>G , CM000677.1:g.50534698C>G	GRCh37
NC_000015.8:g.48321990C>G	NCBI36
NG_027487.1:g.28465G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1748G>C MANE Select	ENSP00000267845.3:p.Arg583Pro
ENST00000267845.7:c.1748G>C	ENSP00000267845.3:p.Arg583Pro
ENST00000543581.5:c.1649G>C	ENSP00000440252.1:p.Arg550Pro
ENST00000559816.1:n.1492G>C
NM_001306146.1:c.1649G>C	NP_001293075.1:p.Arg550Pro
NM_002112.3:c.1748G>C	NP_002103.2:p.Arg583Pro
XM_011521479.1:c.1511G>C	XP_011519781.1:p.Arg504Pro
XM_011521480.1:c.1316G>C	XP_011519782.1:p.Arg439Pro
XM_017022094.1:c.1853G>C	XP_016877583.1:p.Arg618Pro
XM_017022095.1:c.1754G>C	XP_016877584.1:p.Arg585Pro
XM_017022096.1:c.1625G>C	XP_016877585.1:p.Arg542Pro
XM_017022097.1:c.1616G>C	XP_016877586.1:p.Arg539Pro
XM_017022098.1:c.1421G>C	XP_016877587.1:p.Arg474Pro
NM_002112.4:c.1748G>C MANE Select	NP_002103.2:p.Arg583Pro
NM_001306146.2:c.1649G>C	NP_001293075.1:p.Arg550Pro