Canonical Allele Identifier: CA392377057

Gene: HDC

Linked Data

• dbSNP Id: rs1567443452
• gnomAD v4: 15-50242454-G-A
• MyVariant Identifiers: chr15:g.50534651G>A (hg19) ; chr15:g.50242454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242454G>A , CM000677.2:g.50242454G>A	GRCh38
NC_000015.9:g.50534651G>A , CM000677.1:g.50534651G>A	GRCh37
NC_000015.8:g.48321943G>A	NCBI36
NG_027487.1:g.28512C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1795C>T MANE Select	ENSP00000267845.3:p.Pro599Ser
ENST00000267845.7:c.1795C>T	ENSP00000267845.3:p.Pro599Ser
ENST00000543581.5:c.1696C>T	ENSP00000440252.1:p.Pro566Ser
ENST00000559816.1:n.1539C>T
NM_001306146.1:c.1696C>T	NP_001293075.1:p.Pro566Ser
NM_002112.3:c.1795C>T	NP_002103.2:p.Pro599Ser
XM_011521479.1:c.1558C>T	XP_011519781.1:p.Pro520Ser
XM_011521480.1:c.1363C>T	XP_011519782.1:p.Pro455Ser
XM_017022094.1:c.1900C>T	XP_016877583.1:p.Pro634Ser
XM_017022095.1:c.1801C>T	XP_016877584.1:p.Pro601Ser
XM_017022096.1:c.1672C>T	XP_016877585.1:p.Pro558Ser
XM_017022097.1:c.1663C>T	XP_016877586.1:p.Pro555Ser
XM_017022098.1:c.1468C>T	XP_016877587.1:p.Pro490Ser
NM_002112.4:c.1795C>T MANE Select	NP_002103.2:p.Pro599Ser
NM_001306146.2:c.1696C>T	NP_001293075.1:p.Pro566Ser