Canonical Allele Identifier: CA277916
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 3167
ClinVar RCV Id: RCV000003317
dbSNP Id: rs120074171

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120638471C>A , CM000665.2:g.120638471C>A GRCh38
NC_000003.11:g.120357318C>A , CM000665.1:g.120357318C>A GRCh37
NC_000003.10:g.121840008C>A NCBI36
NG_011957.1:g.49011G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.990G>T MANE Select ENSP00000283871.5:p.Arg330Ser
ENST00000283871.9:c.990G>T ENSP00000283871.5:p.Arg330Ser
ENST00000470321.1:n.330G>T
ENST00000475447.2:c.307+3118G>T
ENST00000492108.5:c.285+3118G>T ENSP00000419838.1:n.285+3118G>T
ENST00000494453.1:c.410G>T
NM_000187.3:c.990G>T NP_000178.2:p.Arg330Ser
XM_005247412.1:c.765G>T XP_005247469.1:p.Arg255Ser
XM_005247413.1:c.990G>T XP_005247470.1:p.Arg330Ser
XM_011512746.1:c.879+3118G>T XP_011511048.1:n.879+3118G>T
XM_005247412.2:c.765G>T XP_005247469.1:p.Arg255Ser
XM_005247413.2:c.990G>T XP_005247470.1:p.Arg330Ser
XM_011512746.2:c.879+3118G>T XP_011511048.1:n.879+3118G>T
XM_017006277.2:c.567G>T XP_016861766.1:p.Arg189Ser
NM_000187.4:c.990G>T MANE Select NP_000178.2:p.Arg330Ser