Canonical Allele Identifier: CA354076801
Gene: HGD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120646354A>G , CM000665.2:g.120646354A>G GRCh38
NC_000003.11:g.120365201A>G , CM000665.1:g.120365201A>G GRCh37
NC_000003.10:g.121847891A>G NCBI36
NG_011957.1:g.41128T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.562T>C MANE Select ENSP00000283871.5:p.Phe188Leu
ENST00000283871.9:c.562T>C ENSP00000283871.5:p.Phe188Leu
ENST00000475447.2:c.93T>C
ENST00000492108.5:c.180+619T>C ENSP00000419838.1:n.180+619T>C
NM_000187.3:c.562T>C NP_000178.2:p.Phe188Leu
XM_005247412.1:c.549+619T>C XP_005247469.1:n.549+619T>C
XM_005247413.1:c.562T>C XP_005247470.1:p.Phe188Leu
XM_005247414.3:c.562T>C XP_005247471.1:p.Phe188Leu
XM_011512746.1:c.562T>C XP_011511048.1:p.Phe188Leu
XM_005247412.2:c.549+619T>C XP_005247469.1:n.549+619T>C
XM_005247413.2:c.562T>C XP_005247470.1:p.Phe188Leu
XM_005247414.5:c.562T>C XP_005247471.1:p.Phe188Leu
XM_011512746.2:c.562T>C XP_011511048.1:p.Phe188Leu
XM_017006277.2:c.139T>C XP_016861766.1:p.Phe47Leu
NM_000187.4:c.562T>C MANE Select NP_000178.2:p.Phe188Leu