Canonical Allele Identifier: CA7826086
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs200344292
gnomAD v2: 16-2035956-G-A
gnomAD v3: 16-1985955-G-A
gnomAD v4: 16-1985955-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985955G>A , CM000678.2:g.1985955G>A GRCh38
NC_000016.9:g.2035956G>A , CM000678.1:g.2035956G>A GRCh37
NC_000016.8:g.1975957G>A NCBI36
NG_016288.1:g.6807G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.320G>A ENSP00000455885.1:p.Gly107Asp
ENST00000248114.7:c.545G>A MANE Select ENSP00000248114.6:p.Gly182Asp
ENST00000248114.6:c.545G>A ENSP00000248114.6:p.Gly182Asp
ENST00000565658.1:n.702G>A
ENST00000567719.1:c.320G>A ENSP00000455885.1:p.Gly107Asp
ENST00000569451.1:c.*18G>A ENSP00000456432.1:n.*18G>A
NM_005262.2:c.545G>A NP_005253.3:p.Gly182Asp
NM_005262.3:c.545G>A MANE Select NP_005253.3:p.Gly182Asp