Canonical Allele Identifier: CA392376975

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534611A>G (hg19) ; chr15:g.50242414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242414A>G , CM000677.2:g.50242414A>G	GRCh38
NC_000015.9:g.50534611A>G , CM000677.1:g.50534611A>G	GRCh37
NC_000015.8:g.48321903A>G	NCBI36
NG_027487.1:g.28552T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1835T>C MANE Select	ENSP00000267845.3:p.Val612Ala
ENST00000267845.7:c.1835T>C	ENSP00000267845.3:p.Val612Ala
ENST00000543581.5:c.1736T>C	ENSP00000440252.1:p.Val579Ala
ENST00000559816.1:n.1579T>C
NM_001306146.1:c.1736T>C	NP_001293075.1:p.Val579Ala
NM_002112.3:c.1835T>C	NP_002103.2:p.Val612Ala
XM_011521479.1:c.1598T>C	XP_011519781.1:p.Val533Ala
XM_011521480.1:c.1403T>C	XP_011519782.1:p.Val468Ala
XM_017022094.1:c.1940T>C	XP_016877583.1:p.Val647Ala
XM_017022095.1:c.1841T>C	XP_016877584.1:p.Val614Ala
XM_017022096.1:c.1712T>C	XP_016877585.1:p.Val571Ala
XM_017022097.1:c.1703T>C	XP_016877586.1:p.Val568Ala
XM_017022098.1:c.1508T>C	XP_016877587.1:p.Val503Ala
NM_002112.4:c.1835T>C MANE Select	NP_002103.2:p.Val612Ala
NM_001306146.2:c.1736T>C	NP_001293075.1:p.Val579Ala