Canonical Allele Identifier: CA2560000
Gene: HGD HGNC NCBI

Linked Data

dbSNP Id: rs778359542

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120638457T>C , CM000665.2:g.120638457T>C GRCh38
NC_000003.11:g.120357304T>C , CM000665.1:g.120357304T>C GRCh37
NC_000003.10:g.121839994T>C NCBI36
NG_011957.1:g.49025A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.1004A>G MANE Select ENSP00000283871.5:p.His335Arg
ENST00000283871.9:c.1004A>G ENSP00000283871.5:p.His335Arg
ENST00000470321.1:n.344A>G
ENST00000475447.2:c.307+3132A>G
ENST00000492108.5:c.285+3132A>G ENSP00000419838.1:n.285+3132A>G
ENST00000494453.1:c.424A>G
NM_000187.3:c.1004A>G NP_000178.2:p.His335Arg
XM_005247412.1:c.779A>G XP_005247469.1:p.His260Arg
XM_005247413.1:c.1004A>G XP_005247470.1:p.His335Arg
XM_011512746.1:c.879+3132A>G XP_011511048.1:n.879+3132A>G
XM_005247412.2:c.779A>G XP_005247469.1:p.His260Arg
XM_005247413.2:c.1004A>G XP_005247470.1:p.His335Arg
XM_011512746.2:c.879+3132A>G XP_011511048.1:n.879+3132A>G
XM_017006277.2:c.581A>G XP_016861766.1:p.His194Arg
NM_000187.4:c.1004A>G MANE Select NP_000178.2:p.His335Arg