Canonical Allele Identifier: CA354081295
Gene: HGD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120670468C>T , CM000665.2:g.120670468C>T GRCh38
NC_000003.11:g.120389315C>T , CM000665.1:g.120389315C>T GRCh37
NC_000003.10:g.121872005C>T NCBI36
NG_011957.1:g.17014G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.241G>A MANE Select ENSP00000283871.5:p.Val81Ile
ENST00000283871.9:c.241G>A ENSP00000283871.5:p.Val81Ile
ENST00000466528.5:n.267G>A
ENST00000476082.2:c.118G>A ENSP00000419560.2:p.Val40Ile
ENST00000485313.5:n.349G>A
ENST00000488183.5:n.499G>A
NM_000187.3:c.241G>A NP_000178.2:p.Val81Ile
XM_005247412.1:c.241G>A XP_005247469.1:p.Val81Ile
XM_005247413.1:c.241G>A XP_005247470.1:p.Val81Ile
XM_005247414.3:c.241G>A XP_005247471.1:p.Val81Ile
XM_011512746.1:c.241G>A XP_011511048.1:p.Val81Ile
XM_005247412.2:c.241G>A XP_005247469.1:p.Val81Ile
XM_005247413.2:c.241G>A XP_005247470.1:p.Val81Ile
XM_005247414.5:c.241G>A XP_005247471.1:p.Val81Ile
XM_011512746.2:c.241G>A XP_011511048.1:p.Val81Ile
XM_017006277.2:c.-183G>A XP_016861766.1:n.-183G>A
NM_000187.4:c.241G>A MANE Select NP_000178.2:p.Val81Ile