Canonical Allele Identifier: CA2559960
Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 2158292
ClinVar RCV Id: RCV003069694
dbSNP Id: rs780063156
ExAC: 3:120352020 G / A
gnomAD v3: 3-120633173-G-A
gnomAD v4: 3-120633173-G-A
MyVariant Identifiers: chr3:g.120352020G>A (hg19) chr3:g.120633173G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633173G>A , CM000665.2:g.120633173G>A GRCh38
NC_000003.11:g.120352020G>A , CM000665.1:g.120352020G>A GRCh37
NC_000003.10:g.121834710G>A NCBI36
NG_011957.1:g.54309C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1162C>T MANE Select ENSP00000283871.5:p.Pro388Ser
ENST00000283871.9:c.1162C>T ENSP00000283871.5:p.Pro388Ser
ENST00000470321.1:n.502C>T
ENST00000492108.5:c.441C>T ENSP00000419838.1:n.441C>T
NM_000187.3:c.1162C>T NP_000178.2:p.Pro388Ser
XM_005247412.1:c.937C>T XP_005247469.1:p.Pro313Ser
XM_005247412.2:c.937C>T XP_005247469.1:p.Pro313Ser
XM_017006277.2:c.739C>T XP_016861766.1:p.Pro247Ser
NM_000187.4:c.1162C>T MANE Select NP_000178.2:p.Pro388Ser
Search 100 bp 5'
Search 100 bp 3'