Canonical Allele Identifier: CA392376775

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534524C>G (hg19) ; chr15:g.50242327C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242327C>G , CM000677.2:g.50242327C>G	GRCh38
NC_000015.9:g.50534524C>G , CM000677.1:g.50534524C>G	GRCh37
NC_000015.8:g.48321816C>G	NCBI36
NG_027487.1:g.28639G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.1922G>C MANE Select	ENSP00000267845.3:p.Ser641Thr
ENST00000267845.7:c.1922G>C	ENSP00000267845.3:p.Ser641Thr
ENST00000543581.5:c.1823G>C	ENSP00000440252.1:p.Ser608Thr
ENST00000559816.1:n.1666G>C
NM_001306146.1:c.1823G>C	NP_001293075.1:p.Ser608Thr
NM_002112.3:c.1922G>C	NP_002103.2:p.Ser641Thr
XM_011521479.1:c.1685G>C	XP_011519781.1:p.Ser562Thr
XM_011521480.1:c.1490G>C	XP_011519782.1:p.Ser497Thr
XM_017022094.1:c.2027G>C	XP_016877583.1:p.Ser676Thr
XM_017022095.1:c.1928G>C	XP_016877584.1:p.Ser643Thr
XM_017022096.1:c.1799G>C	XP_016877585.1:p.Ser600Thr
XM_017022097.1:c.1790G>C	XP_016877586.1:p.Ser597Thr
XM_017022098.1:c.1595G>C	XP_016877587.1:p.Ser532Thr
NM_002112.4:c.1922G>C MANE Select	NP_002103.2:p.Ser641Thr
NM_001306146.2:c.1823G>C	NP_001293075.1:p.Ser608Thr