Canonical Allele Identifier: CA392377192

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534716G>T (hg19) ; chr15:g.50242519G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242519G>T , CM000677.2:g.50242519G>T	GRCh38
NC_000015.9:g.50534716G>T , CM000677.1:g.50534716G>T	GRCh37
NC_000015.8:g.48322008G>T	NCBI36
NG_027487.1:g.28447C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1730C>A MANE Select	ENSP00000267845.3:p.Thr577Asn
ENST00000267845.7:c.1730C>A	ENSP00000267845.3:p.Thr577Asn
ENST00000543581.5:c.1631C>A	ENSP00000440252.1:p.Thr544Asn
ENST00000559816.1:n.1474C>A
NM_001306146.1:c.1631C>A	NP_001293075.1:p.Thr544Asn
NM_002112.3:c.1730C>A	NP_002103.2:p.Thr577Asn
XM_011521479.1:c.1493C>A	XP_011519781.1:p.Thr498Asn
XM_011521480.1:c.1298C>A	XP_011519782.1:p.Thr433Asn
XM_017022094.1:c.1835C>A	XP_016877583.1:p.Thr612Asn
XM_017022095.1:c.1736C>A	XP_016877584.1:p.Thr579Asn
XM_017022096.1:c.1607C>A	XP_016877585.1:p.Thr536Asn
XM_017022097.1:c.1598C>A	XP_016877586.1:p.Thr533Asn
XM_017022098.1:c.1403C>A	XP_016877587.1:p.Thr468Asn
NM_002112.4:c.1730C>A MANE Select	NP_002103.2:p.Thr577Asn
NM_001306146.2:c.1631C>A	NP_001293075.1:p.Thr544Asn