Canonical Allele Identifier: CA2560338
Gene: HGD HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.120674936C>T
GRCh37 chr3:g.120393783C>T
gnomAD v2:
3:120393783 C / T
gnomAD v3:
3:120674936 C / T
gnomAD v4:
chr3-120674936-C-T
Joint Max Group AF 0.00038448 (NFE)
Genomes Max Group AF 0.0001123 (NFE)
Exomes Max Group AF 0.00039638 (NFE)
ClinVar RCV:
RCV000260518
ClinVar Variation:
342754
dbSNP:
541268108
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120674936C>T , CM000665.2:g.120674936C>T GRCh38
NC_000003.11:g.120393783C>T , CM000665.1:g.120393783C>T GRCh37
NC_000003.10:g.121876473C>T NCBI36
NG_011957.1:g.12546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.141G>A MANE Select ENSP00000283871.5:p.Ser47=
ENST00000283871.9:c.141G>A ENSP00000283871.5:p.Ser47=
ENST00000466528.5:n.167G>A
ENST00000476082.2:c.53+856G>A ENSP00000419560.2:n.53+856G>A
ENST00000480862.1:n.299G>A
ENST00000485313.5:n.249G>A
ENST00000488183.5:n.399G>A
NM_000187.3:c.141G>A NP_000178.2:p.Ser47=
XM_005247412.1:c.141G>A XP_005247469.1:p.Ser47=
XM_005247413.1:c.141G>A XP_005247470.1:p.Ser47=
XM_005247414.3:c.141G>A XP_005247471.1:p.Ser47=
XM_011512746.1:c.141G>A XP_011511048.1:p.Ser47=
XM_005247412.2:c.141G>A XP_005247469.1:p.Ser47=
XM_005247413.2:c.141G>A XP_005247470.1:p.Ser47=
XM_005247414.5:c.141G>A XP_005247471.1:p.Ser47=
XM_011512746.2:c.141G>A XP_011511048.1:p.Ser47=
XM_017006277.2:c.-283G>A XP_016861766.1:n.-283G>A
NM_000187.4:c.141G>A MANE Select NP_000178.2:p.Ser47=
Search 100 bp 5'
Search 100 bp 3'