Canonical Allele Identifier: CA7554491

Gene: HDC

Linked Data

• dbSNP Id: rs760192923
• ExAC: 15:50534654 G / A
• gnomAD v2: 15-50534654-G-A
• gnomAD v4: 15-50242457-G-A
• MyVariant Identifiers: chr15:g.50534654G>A (hg19) ; chr15:g.50242457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242457G>A , CM000677.2:g.50242457G>A	GRCh38
NC_000015.9:g.50534654G>A , CM000677.1:g.50534654G>A	GRCh37
NC_000015.8:g.48321946G>A	NCBI36
NG_027487.1:g.28509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1792C>T MANE Select	ENSP00000267845.3:p.Leu598=
ENST00000267845.7:c.1792C>T	ENSP00000267845.3:p.Leu598=
ENST00000543581.5:c.1693C>T	ENSP00000440252.1:p.Leu565=
ENST00000559816.1:n.1536C>T
NM_001306146.1:c.1693C>T	NP_001293075.1:p.Leu565=
NM_002112.3:c.1792C>T	NP_002103.2:p.Leu598=
XM_011521479.1:c.1555C>T	XP_011519781.1:p.Leu519=
XM_011521480.1:c.1360C>T	XP_011519782.1:p.Leu454=
XM_017022094.1:c.1897C>T	XP_016877583.1:p.Leu633=
XM_017022095.1:c.1798C>T	XP_016877584.1:p.Leu600=
XM_017022096.1:c.1669C>T	XP_016877585.1:p.Leu557=
XM_017022097.1:c.1660C>T	XP_016877586.1:p.Leu554=
XM_017022098.1:c.1465C>T	XP_016877587.1:p.Leu489=
NM_002112.4:c.1792C>T MANE Select	NP_002103.2:p.Leu598=
NM_001306146.2:c.1693C>T	NP_001293075.1:p.Leu565=