Canonical Allele Identifier: CA392376986

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534617G>C (hg19) ; chr15:g.50242420G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242420G>C , CM000677.2:g.50242420G>C	GRCh38
NC_000015.9:g.50534617G>C , CM000677.1:g.50534617G>C	GRCh37
NC_000015.8:g.48321909G>C	NCBI36
NG_027487.1:g.28546C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1829C>G MANE Select	ENSP00000267845.3:p.Ser610Cys
ENST00000267845.7:c.1829C>G	ENSP00000267845.3:p.Ser610Cys
ENST00000543581.5:c.1730C>G	ENSP00000440252.1:p.Ser577Cys
ENST00000559816.1:n.1573C>G
NM_001306146.1:c.1730C>G	NP_001293075.1:p.Ser577Cys
NM_002112.3:c.1829C>G	NP_002103.2:p.Ser610Cys
XM_011521479.1:c.1592C>G	XP_011519781.1:p.Ser531Cys
XM_011521480.1:c.1397C>G	XP_011519782.1:p.Ser466Cys
XM_017022094.1:c.1934C>G	XP_016877583.1:p.Ser645Cys
XM_017022095.1:c.1835C>G	XP_016877584.1:p.Ser612Cys
XM_017022096.1:c.1706C>G	XP_016877585.1:p.Ser569Cys
XM_017022097.1:c.1697C>G	XP_016877586.1:p.Ser566Cys
XM_017022098.1:c.1502C>G	XP_016877587.1:p.Ser501Cys
NM_002112.4:c.1829C>G MANE Select	NP_002103.2:p.Ser610Cys
NM_001306146.2:c.1730C>G	NP_001293075.1:p.Ser577Cys