Canonical Allele Identifier: CA645579958

Gene: HDC

Linked Data

• COSMIC: COSM6077317

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242577_50242578delinsTT , CM000677.2:g.50242577_50242578delinsTT	GRCh38
NC_000015.9:g.50534774_50534775delinsTT , CM000677.1:g.50534774_50534775delinsTT	GRCh37
NC_000015.8:g.48322066_48322067delinsTT	NCBI36
NG_027487.1:g.28388_28389delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1671_1672delinsAA MANE Select	ENSP00000267845.3:p.Pro558Thr
ENST00000267845.7:c.1671_1672delinsAA	ENSP00000267845.3:p.Pro558Thr
ENST00000543581.5:c.1572_1573delinsAA	ENSP00000440252.1:p.Pro525Thr
ENST00000559816.1:n.1415_1416delinsAA
NM_001306146.1:c.1572_1573delinsAA	NP_001293075.1:p.Pro525Thr
NM_002112.3:c.1671_1672delinsAA	NP_002103.2:p.Pro558Thr
XM_011521479.1:c.1434_1435delinsAA	XP_011519781.1:p.Pro479Thr
XM_011521480.1:c.1239_1240delinsAA	XP_011519782.1:p.Pro414Thr
XM_017022094.1:c.1776_1777delinsAA	XP_016877583.1:p.Pro593Thr
XM_017022095.1:c.1677_1678delinsAA	XP_016877584.1:p.Pro560Thr
XM_017022096.1:c.1548_1549delinsAA	XP_016877585.1:p.Pro517Thr
XM_017022097.1:c.1539_1540delinsAA	XP_016877586.1:p.Pro514Thr
XM_017022098.1:c.1344_1345delinsAA	XP_016877587.1:p.Pro449Thr
NM_002112.4:c.1671_1672delinsAA MANE Select	NP_002103.2:p.Pro558Thr
NM_001306146.2:c.1572_1573delinsAA	NP_001293075.1:p.Pro525Thr