Canonical Allele Identifier: CA7554509

Gene: HDC

Linked Data

• dbSNP Id: rs780647095
• ExAC: 15:50534725 G / A
• gnomAD v2: 15-50534725-G-A
• gnomAD v4: 15-50242528-G-A
• MyVariant Identifiers: chr15:g.50534725G>A (hg19) ; chr15:g.50242528G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242528G>A , CM000677.2:g.50242528G>A	GRCh38
NC_000015.9:g.50534725G>A , CM000677.1:g.50534725G>A	GRCh37
NC_000015.8:g.48322017G>A	NCBI36
NG_027487.1:g.28438C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1721C>T MANE Select	ENSP00000267845.3:p.Ser574Phe
ENST00000267845.7:c.1721C>T	ENSP00000267845.3:p.Ser574Phe
ENST00000543581.5:c.1622C>T	ENSP00000440252.1:p.Ser541Phe
ENST00000559816.1:n.1465C>T
NM_001306146.1:c.1622C>T	NP_001293075.1:p.Ser541Phe
NM_002112.3:c.1721C>T	NP_002103.2:p.Ser574Phe
XM_011521479.1:c.1484C>T	XP_011519781.1:p.Ser495Phe
XM_011521480.1:c.1289C>T	XP_011519782.1:p.Ser430Phe
XM_017022094.1:c.1826C>T	XP_016877583.1:p.Ser609Phe
XM_017022095.1:c.1727C>T	XP_016877584.1:p.Ser576Phe
XM_017022096.1:c.1598C>T	XP_016877585.1:p.Ser533Phe
XM_017022097.1:c.1589C>T	XP_016877586.1:p.Ser530Phe
XM_017022098.1:c.1394C>T	XP_016877587.1:p.Ser465Phe
NM_002112.4:c.1721C>T MANE Select	NP_002103.2:p.Ser574Phe
NM_001306146.2:c.1622C>T	NP_001293075.1:p.Ser541Phe