Canonical Allele Identifier: CA392376877

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534567T>G (hg19) ; chr15:g.50242370T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242370T>G , CM000677.2:g.50242370T>G	GRCh38
NC_000015.9:g.50534567T>G , CM000677.1:g.50534567T>G	GRCh37
NC_000015.8:g.48321859T>G	NCBI36
NG_027487.1:g.28596A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1879A>C MANE Select	ENSP00000267845.3:p.Lys627Gln
ENST00000267845.7:c.1879A>C	ENSP00000267845.3:p.Lys627Gln
ENST00000543581.5:c.1780A>C	ENSP00000440252.1:p.Lys594Gln
ENST00000559816.1:n.1623A>C
NM_001306146.1:c.1780A>C	NP_001293075.1:p.Lys594Gln
NM_002112.3:c.1879A>C	NP_002103.2:p.Lys627Gln
XM_011521479.1:c.1642A>C	XP_011519781.1:p.Lys548Gln
XM_011521480.1:c.1447A>C	XP_011519782.1:p.Lys483Gln
XM_017022094.1:c.1984A>C	XP_016877583.1:p.Lys662Gln
XM_017022095.1:c.1885A>C	XP_016877584.1:p.Lys629Gln
XM_017022096.1:c.1756A>C	XP_016877585.1:p.Lys586Gln
XM_017022097.1:c.1747A>C	XP_016877586.1:p.Lys583Gln
XM_017022098.1:c.1552A>C	XP_016877587.1:p.Lys518Gln
NM_002112.4:c.1879A>C MANE Select	NP_002103.2:p.Lys627Gln
NM_001306146.2:c.1780A>C	NP_001293075.1:p.Lys594Gln