Canonical Allele Identifier: CA490314084

Gene: HDC

Linked Data

• dbSNP Id: rs1292338993
• gnomAD v3: 15-50242452-G-A
• gnomAD v4: 15-50242452-G-A
• MyVariant Identifiers: chr15:g.50534649G>A (hg19) ; chr15:g.50242452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242452G>A , CM000677.2:g.50242452G>A	GRCh38
NC_000015.9:g.50534649G>A , CM000677.1:g.50534649G>A	GRCh37
NC_000015.8:g.48321941G>A	NCBI36
NG_027487.1:g.28514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1797C>T MANE Select	ENSP00000267845.3:p.Pro599=
ENST00000267845.7:c.1797C>T	ENSP00000267845.3:p.Pro599=
ENST00000543581.5:c.1698C>T	ENSP00000440252.1:p.Pro566=
ENST00000559816.1:n.1541C>T
NM_001306146.1:c.1698C>T	NP_001293075.1:p.Pro566=
NM_002112.3:c.1797C>T	NP_002103.2:p.Pro599=
XM_011521479.1:c.1560C>T	XP_011519781.1:p.Pro520=
XM_011521480.1:c.1365C>T	XP_011519782.1:p.Pro455=
XM_017022094.1:c.1902C>T	XP_016877583.1:p.Pro634=
XM_017022095.1:c.1803C>T	XP_016877584.1:p.Pro601=
XM_017022096.1:c.1674C>T	XP_016877585.1:p.Pro558=
XM_017022097.1:c.1665C>T	XP_016877586.1:p.Pro555=
XM_017022098.1:c.1470C>T	XP_016877587.1:p.Pro490=
NM_002112.4:c.1797C>T MANE Select	NP_002103.2:p.Pro599=
NM_001306146.2:c.1698C>T	NP_001293075.1:p.Pro566=