Canonical Allele Identifier: CA7554487

Gene: HDC

Linked Data

• dbSNP Id: rs779304695
• ExAC: 15:50534617 G / A
• gnomAD v2: 15-50534617-G-A
• gnomAD v4: 15-50242420-G-A
• MyVariant Identifiers: chr15:g.50534617G>A (hg19) ; chr15:g.50242420G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1829C>T MANE Select	ENSP00000267845.3:p.Ser610Phe
ENST00000267845.7:c.1829C>T	ENSP00000267845.3:p.Ser610Phe
ENST00000543581.5:c.1730C>T	ENSP00000440252.1:p.Ser577Phe
ENST00000559816.1:n.1573C>T
NM_001306146.1:c.1730C>T	NP_001293075.1:p.Ser577Phe
NM_002112.3:c.1829C>T	NP_002103.2:p.Ser610Phe
XM_011521479.1:c.1592C>T	XP_011519781.1:p.Ser531Phe
XM_011521480.1:c.1397C>T	XP_011519782.1:p.Ser466Phe
XM_017022094.1:c.1934C>T	XP_016877583.1:p.Ser645Phe
XM_017022095.1:c.1835C>T	XP_016877584.1:p.Ser612Phe
XM_017022096.1:c.1706C>T	XP_016877585.1:p.Ser569Phe
XM_017022097.1:c.1697C>T	XP_016877586.1:p.Ser566Phe
XM_017022098.1:c.1502C>T	XP_016877587.1:p.Ser501Phe
NM_002112.4:c.1829C>T MANE Select	NP_002103.2:p.Ser610Phe
NM_001306146.2:c.1730C>T	NP_001293075.1:p.Ser577Phe