Canonical Allele Identifier: CA392376404

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534468C>A (hg19) ; chr15:g.50242271C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242271C>A , CM000677.2:g.50242271C>A	GRCh38
NC_000015.9:g.50534468C>A , CM000677.1:g.50534468C>A	GRCh37
NC_000015.8:g.48321760C>A	NCBI36
NG_027487.1:g.28695G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1978G>T MANE Select	ENSP00000267845.3:p.Ala660Ser
ENST00000267845.7:c.1978G>T	ENSP00000267845.3:p.Ala660Ser
ENST00000543581.5:c.1879G>T	ENSP00000440252.1:p.Ala627Ser
ENST00000559816.1:n.1722G>T
NM_001306146.1:c.1879G>T	NP_001293075.1:p.Ala627Ser
NM_002112.3:c.1978G>T	NP_002103.2:p.Ala660Ser
XM_011521479.1:c.1741G>T	XP_011519781.1:p.Ala581Ser
XM_011521480.1:c.1546G>T	XP_011519782.1:p.Ala516Ser
XM_017022094.1:c.2083G>T	XP_016877583.1:p.Ala695Ser
XM_017022095.1:c.1984G>T	XP_016877584.1:p.Ala662Ser
XM_017022096.1:c.1855G>T	XP_016877585.1:p.Ala619Ser
XM_017022097.1:c.1846G>T	XP_016877586.1:p.Ala616Ser
XM_017022098.1:c.1651G>T	XP_016877587.1:p.Ala551Ser
NM_002112.4:c.1978G>T MANE Select	NP_002103.2:p.Ala660Ser
NM_001306146.2:c.1879G>T	NP_001293075.1:p.Ala627Ser