Canonical Allele Identifier: CA7554474

Gene: HDC

Linked Data

• dbSNP Id: rs760423840
• ExAC: 15:50534527 G / A
• gnomAD v2: 15-50534527-G-A
• gnomAD v4: 15-50242330-G-A
• MyVariant Identifiers: chr15:g.50534527G>A (hg19) ; chr15:g.50242330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242330G>A , CM000677.2:g.50242330G>A	GRCh38
NC_000015.9:g.50534527G>A , CM000677.1:g.50534527G>A	GRCh37
NC_000015.8:g.48321819G>A	NCBI36
NG_027487.1:g.28636C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.1919C>T MANE Select	ENSP00000267845.3:p.Pro640Leu
ENST00000267845.7:c.1919C>T	ENSP00000267845.3:p.Pro640Leu
ENST00000543581.5:c.1820C>T	ENSP00000440252.1:p.Pro607Leu
ENST00000559816.1:n.1663C>T
NM_001306146.1:c.1820C>T	NP_001293075.1:p.Pro607Leu
NM_002112.3:c.1919C>T	NP_002103.2:p.Pro640Leu
XM_011521479.1:c.1682C>T	XP_011519781.1:p.Pro561Leu
XM_011521480.1:c.1487C>T	XP_011519782.1:p.Pro496Leu
XM_017022094.1:c.2024C>T	XP_016877583.1:p.Pro675Leu
XM_017022095.1:c.1925C>T	XP_016877584.1:p.Pro642Leu
XM_017022096.1:c.1796C>T	XP_016877585.1:p.Pro599Leu
XM_017022097.1:c.1787C>T	XP_016877586.1:p.Pro596Leu
XM_017022098.1:c.1592C>T	XP_016877587.1:p.Pro531Leu
NM_002112.4:c.1919C>T MANE Select	NP_002103.2:p.Pro640Leu
NM_001306146.2:c.1820C>T	NP_001293075.1:p.Pro607Leu