Canonical Allele Identifier: CA394304797
Gene: GFER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986020T>G , CM000678.2:g.1986020T>G GRCh38
NC_000016.9:g.2036021T>G , CM000678.1:g.2036021T>G GRCh37
NC_000016.8:g.1976022T>G NCBI36
NG_016288.1:g.6872T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.385T>G ENSP00000455885.1:p.Cys129Gly
ENST00000248114.7:c.610T>G MANE Select ENSP00000248114.6:p.Cys204Gly
ENST00000248114.6:c.610T>G ENSP00000248114.6:p.Cys204Gly
ENST00000565658.1:n.767T>G
ENST00000567719.1:c.385T>G ENSP00000455885.1:p.Cys129Gly
ENST00000569451.1:c.*83T>G ENSP00000456432.1:n.*83T>G
NM_005262.2:c.610T>G NP_005253.3:p.Cys204Gly
NM_005262.3:c.610T>G MANE Select NP_005253.3:p.Cys204Gly