Canonical Allele Identifier: CA340042
Gene: HGD HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.120644405G>A
GRCh37 chr3:g.120363252G>A
Revel Score:
ENST00000283871 (MANE Select) 0.981
gnomAD v2:
3:120363252 G / A
gnomAD v3:
3:120644405 G / A
gnomAD v4:
chr3-120644405-G-A
Joint Max Group AF 0.0000451 (NFE)
Genomes Max Group AF 0.00002259 (AMR)
Exomes Max Group AF 0.00004612 (NFE)
ClinVar RCV:
RCV000003315
ClinVar Variation:
3165
dbSNP:
28942100
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120644405G>A , CM000665.2:g.120644405G>A GRCh38
NC_000003.11:g.120363252G>A , CM000665.1:g.120363252G>A GRCh37
NC_000003.10:g.121845942G>A NCBI36
NG_011957.1:g.43077C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.688C>T MANE Select ENSP00000283871.5:p.Pro230Ser
ENST00000283871.9:c.688C>T ENSP00000283871.5:p.Pro230Ser
ENST00000475447.2:c.202+193C>T
ENST00000492108.5:c.180+2568C>T ENSP00000419838.1:n.180+2568C>T
ENST00000494453.1:c.108C>T
NM_000187.3:c.688C>T NP_000178.2:p.Pro230Ser
XM_005247412.1:c.549+2568C>T XP_005247469.1:n.549+2568C>T
XM_005247413.1:c.688C>T XP_005247470.1:p.Pro230Ser
XM_011512746.1:c.688C>T XP_011511048.1:p.Pro230Ser
XM_005247412.2:c.549+2568C>T XP_005247469.1:n.549+2568C>T
XM_005247413.2:c.688C>T XP_005247470.1:p.Pro230Ser
XM_005247414.5:c.*162C>T XP_005247471.1:n.*162C>T
XM_011512746.2:c.688C>T XP_011511048.1:p.Pro230Ser
XM_017006277.2:c.265C>T XP_016861766.1:p.Pro89Ser
NM_000187.4:c.688C>T MANE Select NP_000178.2:p.Pro230Ser
Search 100 bp 5'
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