Canonical Allele Identifier: CA392377298

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534765T>C (hg19) ; chr15:g.50242568T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242568T>C , CM000677.2:g.50242568T>C	GRCh38
NC_000015.9:g.50534765T>C , CM000677.1:g.50534765T>C	GRCh37
NC_000015.8:g.48322057T>C	NCBI36
NG_027487.1:g.28398A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1681A>G MANE Select	ENSP00000267845.3:p.Thr561Ala
ENST00000267845.7:c.1681A>G	ENSP00000267845.3:p.Thr561Ala
ENST00000543581.5:c.1582A>G	ENSP00000440252.1:p.Thr528Ala
ENST00000559816.1:n.1425A>G
NM_001306146.1:c.1582A>G	NP_001293075.1:p.Thr528Ala
NM_002112.3:c.1681A>G	NP_002103.2:p.Thr561Ala
XM_011521479.1:c.1444A>G	XP_011519781.1:p.Thr482Ala
XM_011521480.1:c.1249A>G	XP_011519782.1:p.Thr417Ala
XM_017022094.1:c.1786A>G	XP_016877583.1:p.Thr596Ala
XM_017022095.1:c.1687A>G	XP_016877584.1:p.Thr563Ala
XM_017022096.1:c.1558A>G	XP_016877585.1:p.Thr520Ala
XM_017022097.1:c.1549A>G	XP_016877586.1:p.Thr517Ala
XM_017022098.1:c.1354A>G	XP_016877587.1:p.Thr452Ala
NM_002112.4:c.1681A>G MANE Select	NP_002103.2:p.Thr561Ala
NM_001306146.2:c.1582A>G	NP_001293075.1:p.Thr528Ala