Canonical Allele Identifier: CA7554508

Gene: HDC

Linked Data

• ClinVar Variation Id: 3104658
• ClinVar RCV Id: RCV004401516
• dbSNP Id: rs200537365
• ExAC: 15:50534717 T / A
• gnomAD v2: 15-50534717-T-A
• gnomAD v3: 15-50242520-T-A
• gnomAD v4: 15-50242520-T-A
• MyVariant Identifiers: chr15:g.50534717T>A (hg19) ; chr15:g.50242520T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242520T>A , CM000677.2:g.50242520T>A	GRCh38
NC_000015.9:g.50534717T>A , CM000677.1:g.50534717T>A	GRCh37
NC_000015.8:g.48322009T>A	NCBI36
NG_027487.1:g.28446A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1729A>T MANE Select	ENSP00000267845.3:p.Thr577Ser
ENST00000267845.7:c.1729A>T	ENSP00000267845.3:p.Thr577Ser
ENST00000543581.5:c.1630A>T	ENSP00000440252.1:p.Thr544Ser
ENST00000559816.1:n.1473A>T
NM_001306146.1:c.1630A>T	NP_001293075.1:p.Thr544Ser
NM_002112.3:c.1729A>T	NP_002103.2:p.Thr577Ser
XM_011521479.1:c.1492A>T	XP_011519781.1:p.Thr498Ser
XM_011521480.1:c.1297A>T	XP_011519782.1:p.Thr433Ser
XM_017022094.1:c.1834A>T	XP_016877583.1:p.Thr612Ser
XM_017022095.1:c.1735A>T	XP_016877584.1:p.Thr579Ser
XM_017022096.1:c.1606A>T	XP_016877585.1:p.Thr536Ser
XM_017022097.1:c.1597A>T	XP_016877586.1:p.Thr533Ser
XM_017022098.1:c.1402A>T	XP_016877587.1:p.Thr468Ser
NM_002112.4:c.1729A>T MANE Select	NP_002103.2:p.Thr577Ser
NM_001306146.2:c.1630A>T	NP_001293075.1:p.Thr544Ser