Canonical Allele Identifier: CA392376761

Gene: HDC

Linked Data

• gnomAD v4: 15-50242322-G-A
• COSMIC: COSM1708152
• MyVariant Identifiers: chr15:g.50534519G>A (hg19) ; chr15:g.50242322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242322G>A , CM000677.2:g.50242322G>A	GRCh38
NC_000015.9:g.50534519G>A , CM000677.1:g.50534519G>A	GRCh37
NC_000015.8:g.48321811G>A	NCBI36
NG_027487.1:g.28644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1927C>T MANE Select	ENSP00000267845.3:p.Pro643Ser
ENST00000267845.7:c.1927C>T	ENSP00000267845.3:p.Pro643Ser
ENST00000543581.5:c.1828C>T	ENSP00000440252.1:p.Pro610Ser
ENST00000559816.1:n.1671C>T
NM_001306146.1:c.1828C>T	NP_001293075.1:p.Pro610Ser
NM_002112.3:c.1927C>T	NP_002103.2:p.Pro643Ser
XM_011521479.1:c.1690C>T	XP_011519781.1:p.Pro564Ser
XM_011521480.1:c.1495C>T	XP_011519782.1:p.Pro499Ser
XM_017022094.1:c.2032C>T	XP_016877583.1:p.Pro678Ser
XM_017022095.1:c.1933C>T	XP_016877584.1:p.Pro645Ser
XM_017022096.1:c.1804C>T	XP_016877585.1:p.Pro602Ser
XM_017022097.1:c.1795C>T	XP_016877586.1:p.Pro599Ser
XM_017022098.1:c.1600C>T	XP_016877587.1:p.Pro534Ser
NM_002112.4:c.1927C>T MANE Select	NP_002103.2:p.Pro643Ser
NM_001306146.2:c.1828C>T	NP_001293075.1:p.Pro610Ser