Canonical Allele Identifier: CA392377276

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534755T>G (hg19) ; chr15:g.50242558T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242558T>G , CM000677.2:g.50242558T>G	GRCh38
NC_000015.9:g.50534755T>G , CM000677.1:g.50534755T>G	GRCh37
NC_000015.8:g.48322047T>G	NCBI36
NG_027487.1:g.28408A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1691A>C MANE Select	ENSP00000267845.3:p.Lys564Thr
ENST00000267845.7:c.1691A>C	ENSP00000267845.3:p.Lys564Thr
ENST00000543581.5:c.1592A>C	ENSP00000440252.1:p.Lys531Thr
ENST00000559816.1:n.1435A>C
NM_001306146.1:c.1592A>C	NP_001293075.1:p.Lys531Thr
NM_002112.3:c.1691A>C	NP_002103.2:p.Lys564Thr
XM_011521479.1:c.1454A>C	XP_011519781.1:p.Lys485Thr
XM_011521480.1:c.1259A>C	XP_011519782.1:p.Lys420Thr
XM_017022094.1:c.1796A>C	XP_016877583.1:p.Lys599Thr
XM_017022095.1:c.1697A>C	XP_016877584.1:p.Lys566Thr
XM_017022096.1:c.1568A>C	XP_016877585.1:p.Lys523Thr
XM_017022097.1:c.1559A>C	XP_016877586.1:p.Lys520Thr
XM_017022098.1:c.1364A>C	XP_016877587.1:p.Lys455Thr
NM_002112.4:c.1691A>C MANE Select	NP_002103.2:p.Lys564Thr
NM_001306146.2:c.1592A>C	NP_001293075.1:p.Lys531Thr