Canonical Allele Identifier: CA392377284

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534758T>G (hg19) ; chr15:g.50242561T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242561T>G , CM000677.2:g.50242561T>G	GRCh38
NC_000015.9:g.50534758T>G , CM000677.1:g.50534758T>G	GRCh37
NC_000015.8:g.48322050T>G	NCBI36
NG_027487.1:g.28405A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1688A>C MANE Select	ENSP00000267845.3:p.His563Pro
ENST00000267845.7:c.1688A>C	ENSP00000267845.3:p.His563Pro
ENST00000543581.5:c.1589A>C	ENSP00000440252.1:p.His530Pro
ENST00000559816.1:n.1432A>C
NM_001306146.1:c.1589A>C	NP_001293075.1:p.His530Pro
NM_002112.3:c.1688A>C	NP_002103.2:p.His563Pro
XM_011521479.1:c.1451A>C	XP_011519781.1:p.His484Pro
XM_011521480.1:c.1256A>C	XP_011519782.1:p.His419Pro
XM_017022094.1:c.1793A>C	XP_016877583.1:p.His598Pro
XM_017022095.1:c.1694A>C	XP_016877584.1:p.His565Pro
XM_017022096.1:c.1565A>C	XP_016877585.1:p.His522Pro
XM_017022097.1:c.1556A>C	XP_016877586.1:p.His519Pro
XM_017022098.1:c.1361A>C	XP_016877587.1:p.His454Pro
NM_002112.4:c.1688A>C MANE Select	NP_002103.2:p.His563Pro
NM_001306146.2:c.1589A>C	NP_001293075.1:p.His530Pro