Canonical Allele Identifier: CA2559962
Gene: HGD HGNC NCBI

Linked Data

dbSNP Id: rs371538956
ExAC: 3:120352025 A / G
gnomAD v2: 3-120352025-A-G
gnomAD v3: 3-120633178-A-G
gnomAD v4: 3-120633178-A-G
MyVariant Identifiers: chr3:g.120352025A>G (hg19) chr3:g.120633178A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633178A>G , CM000665.2:g.120633178A>G GRCh38
NC_000003.11:g.120352025A>G , CM000665.1:g.120352025A>G GRCh37
NC_000003.10:g.121834715A>G NCBI36
NG_011957.1:g.54304T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1157T>C MANE Select ENSP00000283871.5:p.Leu386Pro
ENST00000283871.9:c.1157T>C ENSP00000283871.5:p.Leu386Pro
ENST00000470321.1:n.497T>C
ENST00000492108.5:c.436T>C ENSP00000419838.1:n.436T>C
NM_000187.3:c.1157T>C NP_000178.2:p.Leu386Pro
XM_005247412.1:c.932T>C XP_005247469.1:p.Leu311Pro
XM_005247412.2:c.932T>C XP_005247469.1:p.Leu311Pro
XM_017006277.2:c.734T>C XP_016861766.1:p.Leu245Pro
NM_000187.4:c.1157T>C MANE Select NP_000178.2:p.Leu386Pro
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