Canonical Allele Identifier: CA7554510

Gene: HDC

Linked Data

• dbSNP Id: rs747503110
• ExAC: 15:50534740 A / G
• gnomAD v2: 15-50534740-A-G
• gnomAD v3: 15-50242543-A-G
• gnomAD v4: 15-50242543-A-G
• MyVariant Identifiers: chr15:g.50534740A>G (hg19) ; chr15:g.50242543A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242543A>G , CM000677.2:g.50242543A>G	GRCh38
NC_000015.9:g.50534740A>G , CM000677.1:g.50534740A>G	GRCh37
NC_000015.8:g.48322032A>G	NCBI36
NG_027487.1:g.28423T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1706T>C MANE Select	ENSP00000267845.3:p.Leu569Pro
ENST00000267845.7:c.1706T>C	ENSP00000267845.3:p.Leu569Pro
ENST00000543581.5:c.1607T>C	ENSP00000440252.1:p.Leu536Pro
ENST00000559816.1:n.1450T>C
NM_001306146.1:c.1607T>C	NP_001293075.1:p.Leu536Pro
NM_002112.3:c.1706T>C	NP_002103.2:p.Leu569Pro
XM_011521479.1:c.1469T>C	XP_011519781.1:p.Leu490Pro
XM_011521480.1:c.1274T>C	XP_011519782.1:p.Leu425Pro
XM_017022094.1:c.1811T>C	XP_016877583.1:p.Leu604Pro
XM_017022095.1:c.1712T>C	XP_016877584.1:p.Leu571Pro
XM_017022096.1:c.1583T>C	XP_016877585.1:p.Leu528Pro
XM_017022097.1:c.1574T>C	XP_016877586.1:p.Leu525Pro
XM_017022098.1:c.1379T>C	XP_016877587.1:p.Leu460Pro
NM_002112.4:c.1706T>C MANE Select	NP_002103.2:p.Leu569Pro
NM_001306146.2:c.1607T>C	NP_001293075.1:p.Leu536Pro