Canonical Allele Identifier: CA7554486

Gene: HDC

Linked Data

• dbSNP Id: rs771267720
• ExAC: 15:50534613 C / A
• gnomAD v2: 15-50534613-C-A
• gnomAD v3: 15-50242416-C-A
• gnomAD v4: 15-50242416-C-A
• MyVariant Identifiers: chr15:g.50534613C>A (hg19) ; chr15:g.50242416C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242416C>A , CM000677.2:g.50242416C>A	GRCh38
NC_000015.9:g.50534613C>A , CM000677.1:g.50534613C>A	GRCh37
NC_000015.8:g.48321905C>A	NCBI36
NG_027487.1:g.28550G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1833G>T MANE Select	ENSP00000267845.3:p.Arg611Ser
ENST00000267845.7:c.1833G>T	ENSP00000267845.3:p.Arg611Ser
ENST00000543581.5:c.1734G>T	ENSP00000440252.1:p.Arg578Ser
ENST00000559816.1:n.1577G>T
NM_001306146.1:c.1734G>T	NP_001293075.1:p.Arg578Ser
NM_002112.3:c.1833G>T	NP_002103.2:p.Arg611Ser
XM_011521479.1:c.1596G>T	XP_011519781.1:p.Arg532Ser
XM_011521480.1:c.1401G>T	XP_011519782.1:p.Arg467Ser
XM_017022094.1:c.1938G>T	XP_016877583.1:p.Arg646Ser
XM_017022095.1:c.1839G>T	XP_016877584.1:p.Arg613Ser
XM_017022096.1:c.1710G>T	XP_016877585.1:p.Arg570Ser
XM_017022097.1:c.1701G>T	XP_016877586.1:p.Arg567Ser
XM_017022098.1:c.1506G>T	XP_016877587.1:p.Arg502Ser
NM_002112.4:c.1833G>T MANE Select	NP_002103.2:p.Arg611Ser
NM_001306146.2:c.1734G>T	NP_001293075.1:p.Arg578Ser