Canonical Allele Identifier: CA2667172648
Gene: HGD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120670421G>T , CM000665.2:g.120670421G>T GRCh38
NC_000003.11:g.120389268G>T , CM000665.1:g.120389268G>T GRCh37
NC_000003.10:g.121871958G>T NCBI36
NG_011957.1:g.17061C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.282+6C>A MANE Select ENSP00000283871.5:n.282+6C>A
ENST00000283871.9:c.282+6C>A ENSP00000283871.5:n.282+6C>A
ENST00000466528.5:n.314C>A
ENST00000476082.2:c.159+6C>A ENSP00000419560.2:n.159+6C>A
ENST00000485313.5:n.390+6C>A
ENST00000488183.5:n.540+6C>A
NM_000187.3:c.282+6C>A NP_000178.2:n.282+6C>A
XM_005247412.1:c.282+6C>A XP_005247469.1:n.282+6C>A
XM_005247413.1:c.282+6C>A XP_005247470.1:n.282+6C>A
XM_005247414.3:c.282+6C>A XP_005247471.1:n.282+6C>A
XM_011512746.1:c.282+6C>A XP_011511048.1:n.282+6C>A
XM_005247412.2:c.282+6C>A XP_005247469.1:n.282+6C>A
XM_005247413.2:c.282+6C>A XP_005247470.1:n.282+6C>A
XM_005247414.5:c.282+6C>A XP_005247471.1:n.282+6C>A
XM_011512746.2:c.282+6C>A XP_011511048.1:n.282+6C>A
XM_017006277.2:c.-142+6C>A XP_016861766.1:n.-142+6C>A
NM_000187.4:c.282+6C>A MANE Select NP_000178.2:n.282+6C>A