Canonical Allele Identifier: CA354076840
Gene: HGD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120646364T>A , CM000665.2:g.120646364T>A GRCh38
NC_000003.11:g.120365211T>A , CM000665.1:g.120365211T>A GRCh37
NC_000003.10:g.121847901T>A NCBI36
NG_011957.1:g.41118A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.552A>T MANE Select ENSP00000283871.5:p.Arg184Ser
ENST00000283871.9:c.552A>T ENSP00000283871.5:p.Arg184Ser
ENST00000475447.2:c.83A>T
ENST00000492108.5:c.180+609A>T ENSP00000419838.1:n.180+609A>T
NM_000187.3:c.552A>T NP_000178.2:p.Arg184Ser
XM_005247412.1:c.549+609A>T XP_005247469.1:n.549+609A>T
XM_005247413.1:c.552A>T XP_005247470.1:p.Arg184Ser
XM_005247414.3:c.552A>T XP_005247471.1:p.Arg184Ser
XM_011512746.1:c.552A>T XP_011511048.1:p.Arg184Ser
XM_005247412.2:c.549+609A>T XP_005247469.1:n.549+609A>T
XM_005247413.2:c.552A>T XP_005247470.1:p.Arg184Ser
XM_005247414.5:c.552A>T XP_005247471.1:p.Arg184Ser
XM_011512746.2:c.552A>T XP_011511048.1:p.Arg184Ser
XM_017006277.2:c.129A>T XP_016861766.1:p.Arg43Ser
NM_000187.4:c.552A>T MANE Select NP_000178.2:p.Arg184Ser