Canonical Allele Identifier: CA277982
Gene: HGD HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.120682101A>T
GRCh37 chr3:g.120400948A>T
gnomAD v2:
3:120400948 A / T
gnomAD v3:
3:120682101 A / T
gnomAD v4:
chr3-120682101-A-T
Joint Max Group AF 6.8e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
ClinVar Allele:
186674
ClinVar RCV:
RCV000169012
ClinVar Variation:
188717
dbSNP:
786204422
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120682101A>T , CM000665.2:g.120682101A>T GRCh38
NC_000003.11:g.120400948A>T , CM000665.1:g.120400948A>T GRCh37
NC_000003.10:g.121883638A>T NCBI36
NG_011957.1:g.5381T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.11T>A MANE Select ENSP00000283871.5:p.Leu4Ter
ENST00000283871.9:c.11T>A ENSP00000283871.5:p.Leu4Ter
ENST00000466528.5:n.37T>A
ENST00000476082.2:c.-24T>A ENSP00000419560.2:n.-24T>A
ENST00000480862.1:n.169T>A
ENST00000485313.5:n.31T>A
ENST00000488183.5:n.143T>A
NM_000187.3:c.11T>A NP_000178.2:p.Leu4Ter
XM_005247412.1:c.11T>A XP_005247469.1:p.Leu4Ter
XM_005247413.1:c.11T>A XP_005247470.1:p.Leu4Ter
XM_005247414.3:c.11T>A XP_005247471.1:p.Leu4Ter
XM_011512746.1:c.11T>A XP_011511048.1:p.Leu4Ter
XM_005247412.2:c.11T>A XP_005247469.1:p.Leu4Ter
XM_005247413.2:c.11T>A XP_005247470.1:p.Leu4Ter
XM_005247414.5:c.11T>A XP_005247471.1:p.Leu4Ter
XM_011512746.2:c.11T>A XP_011511048.1:p.Leu4Ter
XM_017006277.2:c.-501T>A XP_016861766.1:n.-501T>A
NM_000187.4:c.11T>A MANE Select NP_000178.2:p.Leu4Ter
Search 100 bp 5'
Search 100 bp 3'