Canonical Allele Identifier: CA7554504

Gene: HDC

Linked Data

• dbSNP Id: rs142718396
• ExAC: 15:50534704 G / A
• gnomAD v2: 15-50534704-G-A
• gnomAD v3: 15-50242507-G-A
• gnomAD v4: 15-50242507-G-A
• MyVariant Identifiers: chr15:g.50534704G>A (hg19) ; chr15:g.50534704_50534707delinsATCT (hg19) ; chr15:g.50242507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242507G>A , CM000677.2:g.50242507G>A	GRCh38
NC_000015.9:g.50534704G>A , CM000677.1:g.50534704G>A	GRCh37
NC_000015.8:g.48321996G>A	NCBI36
NG_027487.1:g.28459C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1742C>T MANE Select	ENSP00000267845.3:p.Thr581Met
ENST00000267845.7:c.1742C>T	ENSP00000267845.3:p.Thr581Met
ENST00000543581.5:c.1643C>T	ENSP00000440252.1:p.Thr548Met
ENST00000559816.1:n.1486C>T
NM_001306146.1:c.1643C>T	NP_001293075.1:p.Thr548Met
NM_002112.3:c.1742C>T	NP_002103.2:p.Thr581Met
XM_011521479.1:c.1505C>T	XP_011519781.1:p.Thr502Met
XM_011521480.1:c.1310C>T	XP_011519782.1:p.Thr437Met
XM_017022094.1:c.1847C>T	XP_016877583.1:p.Thr616Met
XM_017022095.1:c.1748C>T	XP_016877584.1:p.Thr583Met
XM_017022096.1:c.1619C>T	XP_016877585.1:p.Thr540Met
XM_017022097.1:c.1610C>T	XP_016877586.1:p.Thr537Met
XM_017022098.1:c.1415C>T	XP_016877587.1:p.Thr472Met
NM_002112.4:c.1742C>T MANE Select	NP_002103.2:p.Thr581Met
NM_001306146.2:c.1643C>T	NP_001293075.1:p.Thr548Met