Canonical Allele Identifier: CA392377316

Gene: HDC

Linked Data

• gnomAD v4: 15-50242577-G-A
• MyVariant Identifiers: chr15:g.50534774G>A (hg19) ; chr15:g.50242577G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242577G>A , CM000677.2:g.50242577G>A	GRCh38
NC_000015.9:g.50534774G>A , CM000677.1:g.50534774G>A	GRCh37
NC_000015.8:g.48322066G>A	NCBI36
NG_027487.1:g.28389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1672C>T MANE Select	ENSP00000267845.3:p.Pro558Ser
ENST00000267845.7:c.1672C>T	ENSP00000267845.3:p.Pro558Ser
ENST00000543581.5:c.1573C>T	ENSP00000440252.1:p.Pro525Ser
ENST00000559816.1:n.1416C>T
NM_001306146.1:c.1573C>T	NP_001293075.1:p.Pro525Ser
NM_002112.3:c.1672C>T	NP_002103.2:p.Pro558Ser
XM_011521479.1:c.1435C>T	XP_011519781.1:p.Pro479Ser
XM_011521480.1:c.1240C>T	XP_011519782.1:p.Pro414Ser
XM_017022094.1:c.1777C>T	XP_016877583.1:p.Pro593Ser
XM_017022095.1:c.1678C>T	XP_016877584.1:p.Pro560Ser
XM_017022096.1:c.1549C>T	XP_016877585.1:p.Pro517Ser
XM_017022097.1:c.1540C>T	XP_016877586.1:p.Pro514Ser
XM_017022098.1:c.1345C>T	XP_016877587.1:p.Pro449Ser
NM_002112.4:c.1672C>T MANE Select	NP_002103.2:p.Pro558Ser
NM_001306146.2:c.1573C>T	NP_001293075.1:p.Pro525Ser