Canonical Allele Identifier: CA392377093

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534668C>G (hg19) ; chr15:g.50242471C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242471C>G , CM000677.2:g.50242471C>G	GRCh38
NC_000015.9:g.50534668C>G , CM000677.1:g.50534668C>G	GRCh37
NC_000015.8:g.48321960C>G	NCBI36
NG_027487.1:g.28495G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1778G>C MANE Select	ENSP00000267845.3:p.Ser593Thr
ENST00000267845.7:c.1778G>C	ENSP00000267845.3:p.Ser593Thr
ENST00000543581.5:c.1679G>C	ENSP00000440252.1:p.Ser560Thr
ENST00000559816.1:n.1522G>C
NM_001306146.1:c.1679G>C	NP_001293075.1:p.Ser560Thr
NM_002112.3:c.1778G>C	NP_002103.2:p.Ser593Thr
XM_011521479.1:c.1541G>C	XP_011519781.1:p.Ser514Thr
XM_011521480.1:c.1346G>C	XP_011519782.1:p.Ser449Thr
XM_017022094.1:c.1883G>C	XP_016877583.1:p.Ser628Thr
XM_017022095.1:c.1784G>C	XP_016877584.1:p.Ser595Thr
XM_017022096.1:c.1655G>C	XP_016877585.1:p.Ser552Thr
XM_017022097.1:c.1646G>C	XP_016877586.1:p.Ser549Thr
XM_017022098.1:c.1451G>C	XP_016877587.1:p.Ser484Thr
NM_002112.4:c.1778G>C MANE Select	NP_002103.2:p.Ser593Thr
NM_001306146.2:c.1679G>C	NP_001293075.1:p.Ser560Thr