Canonical Allele Identifier: CA897952307
Gene: HGD HGNC NCBI

Linked Data

dbSNP Id: rs1416180537

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120638277A>G , CM000665.2:g.120638277A>G GRCh38
NC_000003.11:g.120357124A>G , CM000665.1:g.120357124A>G GRCh37
NC_000003.10:g.121839814A>G NCBI36
NG_011957.1:g.49205T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.1006+178T>C MANE Select ENSP00000283871.5:n.1006+178T>C
ENST00000283871.9:c.1006+178T>C ENSP00000283871.5:n.1006+178T>C
ENST00000470321.1:n.346+178T>C
ENST00000475447.2:c.307+3312T>C
ENST00000492108.5:c.285+3312T>C ENSP00000419838.1:n.285+3312T>C
ENST00000494453.1:c.426+178T>C
NM_000187.3:c.1006+178T>C NP_000178.2:n.1006+178T>C
XM_005247412.1:c.781+178T>C XP_005247469.1:n.781+178T>C
XM_005247413.1:c.1006+178T>C XP_005247470.1:n.1006+178T>C
XM_011512746.1:c.879+3312T>C XP_011511048.1:n.879+3312T>C
XM_005247412.2:c.781+178T>C XP_005247469.1:n.781+178T>C
XM_005247413.2:c.1006+178T>C XP_005247470.1:n.1006+178T>C
XM_011512746.2:c.879+3312T>C XP_011511048.1:n.879+3312T>C
XM_017006277.2:c.583+178T>C XP_016861766.1:n.583+178T>C
NM_000187.4:c.1006+178T>C MANE Select NP_000178.2:n.1006+178T>C