Canonical Allele Identifier: CA392377274

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534754C>G (hg19) ; chr15:g.50242557C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242557C>G , CM000677.2:g.50242557C>G	GRCh38
NC_000015.9:g.50534754C>G , CM000677.1:g.50534754C>G	GRCh37
NC_000015.8:g.48322046C>G	NCBI36
NG_027487.1:g.28409G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1692G>C MANE Select	ENSP00000267845.3:p.Lys564Asn
ENST00000267845.7:c.1692G>C	ENSP00000267845.3:p.Lys564Asn
ENST00000543581.5:c.1593G>C	ENSP00000440252.1:p.Lys531Asn
ENST00000559816.1:n.1436G>C
NM_001306146.1:c.1593G>C	NP_001293075.1:p.Lys531Asn
NM_002112.3:c.1692G>C	NP_002103.2:p.Lys564Asn
XM_011521479.1:c.1455G>C	XP_011519781.1:p.Lys485Asn
XM_011521480.1:c.1260G>C	XP_011519782.1:p.Lys420Asn
XM_017022094.1:c.1797G>C	XP_016877583.1:p.Lys599Asn
XM_017022095.1:c.1698G>C	XP_016877584.1:p.Lys566Asn
XM_017022096.1:c.1569G>C	XP_016877585.1:p.Lys523Asn
XM_017022097.1:c.1560G>C	XP_016877586.1:p.Lys520Asn
XM_017022098.1:c.1365G>C	XP_016877587.1:p.Lys455Asn
NM_002112.4:c.1692G>C MANE Select	NP_002103.2:p.Lys564Asn
NM_001306146.2:c.1593G>C	NP_001293075.1:p.Lys531Asn