Canonical Allele Identifier: CA392377235

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534735T>A (hg19) ; chr15:g.50242538T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242538T>A , CM000677.2:g.50242538T>A	GRCh38
NC_000015.9:g.50534735T>A , CM000677.1:g.50534735T>A	GRCh37
NC_000015.8:g.48322027T>A	NCBI36
NG_027487.1:g.28428A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1711A>T MANE Select	ENSP00000267845.3:p.Ser571Cys
ENST00000267845.7:c.1711A>T	ENSP00000267845.3:p.Ser571Cys
ENST00000543581.5:c.1612A>T	ENSP00000440252.1:p.Ser538Cys
ENST00000559816.1:n.1455A>T
NM_001306146.1:c.1612A>T	NP_001293075.1:p.Ser538Cys
NM_002112.3:c.1711A>T	NP_002103.2:p.Ser571Cys
XM_011521479.1:c.1474A>T	XP_011519781.1:p.Ser492Cys
XM_011521480.1:c.1279A>T	XP_011519782.1:p.Ser427Cys
XM_017022094.1:c.1816A>T	XP_016877583.1:p.Ser606Cys
XM_017022095.1:c.1717A>T	XP_016877584.1:p.Ser573Cys
XM_017022096.1:c.1588A>T	XP_016877585.1:p.Ser530Cys
XM_017022097.1:c.1579A>T	XP_016877586.1:p.Ser527Cys
XM_017022098.1:c.1384A>T	XP_016877587.1:p.Ser462Cys
NM_002112.4:c.1711A>T MANE Select	NP_002103.2:p.Ser571Cys
NM_001306146.2:c.1612A>T	NP_001293075.1:p.Ser538Cys