Canonical Allele Identifier: CA2560267
Gene: HGD HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.120652627G>T
GRCh37 chr3:g.120371474G>T
Revel Score:
ENST00000283871 (MANE Select) 0.673
ENST00000476082 0.673
gnomAD v2:
3:120371474 G / T
gnomAD v3:
3:120652627 G / T
gnomAD v4:
chr3-120652627-G-T
Joint Max Group AF 0.00258193 (SAS)
Genomes Max Group AF 0.00327313 (SAS)
Exomes Max Group AF 0.00247229 (SAS)
ClinVar RCV:
RCV000359600
ClinVar Variation:
342751
dbSNP:
559502955
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120652627G>T , CM000665.2:g.120652627G>T GRCh38
NC_000003.11:g.120371474G>T , CM000665.1:g.120371474G>T GRCh37
NC_000003.10:g.121854164G>T NCBI36
NG_011957.1:g.34855C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.307C>A MANE Select ENSP00000283871.5:p.Pro103Thr
ENST00000283871.9:c.307C>A ENSP00000283871.5:p.Pro103Thr
ENST00000476082.2:c.184C>A ENSP00000419560.2:p.Pro62Thr
ENST00000485313.5:n.415C>A
ENST00000488183.5:n.560C>A
NM_000187.3:c.307C>A NP_000178.2:p.Pro103Thr
XM_005247412.1:c.307C>A XP_005247469.1:p.Pro103Thr
XM_005247413.1:c.307C>A XP_005247470.1:p.Pro103Thr
XM_005247414.3:c.307C>A XP_005247471.1:p.Pro103Thr
XM_011512746.1:c.307C>A XP_011511048.1:p.Pro103Thr
XM_005247412.2:c.307C>A XP_005247469.1:p.Pro103Thr
XM_005247413.2:c.307C>A XP_005247470.1:p.Pro103Thr
XM_005247414.5:c.307C>A XP_005247471.1:p.Pro103Thr
XM_011512746.2:c.307C>A XP_011511048.1:p.Pro103Thr
XM_017006277.2:c.-117C>A XP_016861766.1:n.-117C>A
NM_000187.4:c.307C>A MANE Select NP_000178.2:p.Pro103Thr
Search 100 bp 5'
Search 100 bp 3'