Canonical Allele Identifier: CA392377314

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534773G>C (hg19) ; chr15:g.50242576G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242576G>C , CM000677.2:g.50242576G>C	GRCh38
NC_000015.9:g.50534773G>C , CM000677.1:g.50534773G>C	GRCh37
NC_000015.8:g.48322065G>C	NCBI36
NG_027487.1:g.28390C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1673C>G MANE Select	ENSP00000267845.3:p.Pro558Arg
ENST00000267845.7:c.1673C>G	ENSP00000267845.3:p.Pro558Arg
ENST00000543581.5:c.1574C>G	ENSP00000440252.1:p.Pro525Arg
ENST00000559816.1:n.1417C>G
NM_001306146.1:c.1574C>G	NP_001293075.1:p.Pro525Arg
NM_002112.3:c.1673C>G	NP_002103.2:p.Pro558Arg
XM_011521479.1:c.1436C>G	XP_011519781.1:p.Pro479Arg
XM_011521480.1:c.1241C>G	XP_011519782.1:p.Pro414Arg
XM_017022094.1:c.1778C>G	XP_016877583.1:p.Pro593Arg
XM_017022095.1:c.1679C>G	XP_016877584.1:p.Pro560Arg
XM_017022096.1:c.1550C>G	XP_016877585.1:p.Pro517Arg
XM_017022097.1:c.1541C>G	XP_016877586.1:p.Pro514Arg
XM_017022098.1:c.1346C>G	XP_016877587.1:p.Pro449Arg
NM_002112.4:c.1673C>G MANE Select	NP_002103.2:p.Pro558Arg
NM_001306146.2:c.1574C>G	NP_001293075.1:p.Pro525Arg