Canonical Allele Identifier: CA7554460

Gene: HDC

Linked Data

• dbSNP Id: rs757247674
• ExAC: 15:50534468 C / T
• gnomAD v2: 15-50534468-C-T
• gnomAD v3: 15-50242271-C-T
• gnomAD v4: 15-50242271-C-T
• MyVariant Identifiers: chr15:g.50534468C>T (hg19) ; chr15:g.50242271C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1978G>A MANE Select	ENSP00000267845.3:p.Ala660Thr
ENST00000267845.7:c.1978G>A	ENSP00000267845.3:p.Ala660Thr
ENST00000543581.5:c.1879G>A	ENSP00000440252.1:p.Ala627Thr
ENST00000559816.1:n.1722G>A
NM_001306146.1:c.1879G>A	NP_001293075.1:p.Ala627Thr
NM_002112.3:c.1978G>A	NP_002103.2:p.Ala660Thr
XM_011521479.1:c.1741G>A	XP_011519781.1:p.Ala581Thr
XM_011521480.1:c.1546G>A	XP_011519782.1:p.Ala516Thr
XM_017022094.1:c.2083G>A	XP_016877583.1:p.Ala695Thr
XM_017022095.1:c.1984G>A	XP_016877584.1:p.Ala662Thr
XM_017022096.1:c.1855G>A	XP_016877585.1:p.Ala619Thr
XM_017022097.1:c.1846G>A	XP_016877586.1:p.Ala616Thr
XM_017022098.1:c.1651G>A	XP_016877587.1:p.Ala551Thr
NM_002112.4:c.1978G>A MANE Select	NP_002103.2:p.Ala660Thr
NM_001306146.2:c.1879G>A	NP_001293075.1:p.Ala627Thr