Canonical Allele Identifier: CA2560178
Gene: HGD HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.120647048C>T
GRCh37 chr3:g.120365895C>T
Revel Score:
ENST00000475447 0.249
gnomAD v2:
3:120365895 C / T
gnomAD v3:
3:120647048 C / T
gnomAD v4:
chr3-120647048-C-T
Joint Max Group AF 0.00002104 (SAS)
Genomes Max Group AF 0.00001921 (AFR)
Exomes Max Group AF 0.00002194 (SAS)
ClinVar RCV:
RCV000344698
ClinVar Variation:
342748
dbSNP:
2293734
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120647048C>T , CM000665.2:g.120647048C>T GRCh38
NC_000003.11:g.120365895C>T , CM000665.1:g.120365895C>T GRCh37
NC_000003.10:g.121848585C>T NCBI36
NG_011957.1:g.40434G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.474G>A MANE Select ENSP00000283871.5:p.Pro158=
ENST00000283871.9:c.474G>A ENSP00000283871.5:p.Pro158=
ENST00000475447.2:c.5G>A
ENST00000476082.2:c.351G>A ENSP00000419560.2:p.Pro117=
ENST00000492108.5:c.105G>A ENSP00000419838.1:p.Pro35=
NM_000187.3:c.474G>A NP_000178.2:p.Pro158=
XM_005247412.1:c.474G>A XP_005247469.1:p.Pro158=
XM_005247413.1:c.474G>A XP_005247470.1:p.Pro158=
XM_005247414.3:c.474G>A XP_005247471.1:p.Pro158=
XM_011512746.1:c.474G>A XP_011511048.1:p.Pro158=
XM_005247412.2:c.474G>A XP_005247469.1:p.Pro158=
XM_005247413.2:c.474G>A XP_005247470.1:p.Pro158=
XM_005247414.5:c.474G>A XP_005247471.1:p.Pro158=
XM_011512746.2:c.474G>A XP_011511048.1:p.Pro158=
XM_017006277.2:c.51G>A XP_016861766.1:p.Pro17=
NM_000187.4:c.474G>A MANE Select NP_000178.2:p.Pro158=
Search 100 bp 5'
Search 100 bp 3'