Canonical Allele Identifier: CA392376934

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534591G>T (hg19) ; chr15:g.50242394G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242394G>T , CM000677.2:g.50242394G>T	GRCh38
NC_000015.9:g.50534591G>T , CM000677.1:g.50534591G>T	GRCh37
NC_000015.8:g.48321883G>T	NCBI36
NG_027487.1:g.28572C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1855C>A MANE Select	ENSP00000267845.3:p.Pro619Thr
ENST00000267845.7:c.1855C>A	ENSP00000267845.3:p.Pro619Thr
ENST00000543581.5:c.1756C>A	ENSP00000440252.1:p.Pro586Thr
ENST00000559816.1:n.1599C>A
NM_001306146.1:c.1756C>A	NP_001293075.1:p.Pro586Thr
NM_002112.3:c.1855C>A	NP_002103.2:p.Pro619Thr
XM_011521479.1:c.1618C>A	XP_011519781.1:p.Pro540Thr
XM_011521480.1:c.1423C>A	XP_011519782.1:p.Pro475Thr
XM_017022094.1:c.1960C>A	XP_016877583.1:p.Pro654Thr
XM_017022095.1:c.1861C>A	XP_016877584.1:p.Pro621Thr
XM_017022096.1:c.1732C>A	XP_016877585.1:p.Pro578Thr
XM_017022097.1:c.1723C>A	XP_016877586.1:p.Pro575Thr
XM_017022098.1:c.1528C>A	XP_016877587.1:p.Pro510Thr
NM_002112.4:c.1855C>A MANE Select	NP_002103.2:p.Pro619Thr
NM_001306146.2:c.1756C>A	NP_001293075.1:p.Pro586Thr