Canonical Allele Identifier: CA392377317

Gene: HDC

Linked Data

• dbSNP Id: rs2140921725
• MyVariant Identifiers: chr15:g.50534774G>T (hg19) ; chr15:g.50242577G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242577G>T , CM000677.2:g.50242577G>T	GRCh38
NC_000015.9:g.50534774G>T , CM000677.1:g.50534774G>T	GRCh37
NC_000015.8:g.48322066G>T	NCBI36
NG_027487.1:g.28389C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1672C>A MANE Select	ENSP00000267845.3:p.Pro558Thr
ENST00000267845.7:c.1672C>A	ENSP00000267845.3:p.Pro558Thr
ENST00000543581.5:c.1573C>A	ENSP00000440252.1:p.Pro525Thr
ENST00000559816.1:n.1416C>A
NM_001306146.1:c.1573C>A	NP_001293075.1:p.Pro525Thr
NM_002112.3:c.1672C>A	NP_002103.2:p.Pro558Thr
XM_011521479.1:c.1435C>A	XP_011519781.1:p.Pro479Thr
XM_011521480.1:c.1240C>A	XP_011519782.1:p.Pro414Thr
XM_017022094.1:c.1777C>A	XP_016877583.1:p.Pro593Thr
XM_017022095.1:c.1678C>A	XP_016877584.1:p.Pro560Thr
XM_017022096.1:c.1549C>A	XP_016877585.1:p.Pro517Thr
XM_017022097.1:c.1540C>A	XP_016877586.1:p.Pro514Thr
XM_017022098.1:c.1345C>A	XP_016877587.1:p.Pro449Thr
NM_002112.4:c.1672C>A MANE Select	NP_002103.2:p.Pro558Thr
NM_001306146.2:c.1573C>A	NP_001293075.1:p.Pro525Thr