Canonical Allele Identifier: CA392377054

Gene: HDC

Linked Data

• gnomAD v4: 15-50242453-G-A
• MyVariant Identifiers: chr15:g.50534650G>A (hg19) ; chr15:g.50242453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242453G>A , CM000677.2:g.50242453G>A	GRCh38
NC_000015.9:g.50534650G>A , CM000677.1:g.50534650G>A	GRCh37
NC_000015.8:g.48321942G>A	NCBI36
NG_027487.1:g.28513C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1796C>T MANE Select	ENSP00000267845.3:p.Pro599Leu
ENST00000267845.7:c.1796C>T	ENSP00000267845.3:p.Pro599Leu
ENST00000543581.5:c.1697C>T	ENSP00000440252.1:p.Pro566Leu
ENST00000559816.1:n.1540C>T
NM_001306146.1:c.1697C>T	NP_001293075.1:p.Pro566Leu
NM_002112.3:c.1796C>T	NP_002103.2:p.Pro599Leu
XM_011521479.1:c.1559C>T	XP_011519781.1:p.Pro520Leu
XM_011521480.1:c.1364C>T	XP_011519782.1:p.Pro455Leu
XM_017022094.1:c.1901C>T	XP_016877583.1:p.Pro634Leu
XM_017022095.1:c.1802C>T	XP_016877584.1:p.Pro601Leu
XM_017022096.1:c.1673C>T	XP_016877585.1:p.Pro558Leu
XM_017022097.1:c.1664C>T	XP_016877586.1:p.Pro555Leu
XM_017022098.1:c.1469C>T	XP_016877587.1:p.Pro490Leu
NM_002112.4:c.1796C>T MANE Select	NP_002103.2:p.Pro599Leu
NM_001306146.2:c.1697C>T	NP_001293075.1:p.Pro566Leu