Canonical Allele Identifier: CA394304031
Gene: GFER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985921T>A , CM000678.2:g.1985921T>A GRCh38
NC_000016.9:g.2035922T>A , CM000678.1:g.2035922T>A GRCh37
NC_000016.8:g.1975923T>A NCBI36
NG_016288.1:g.6773T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.286T>A ENSP00000455885.1:p.Cys96Ser
ENST00000248114.7:c.511T>A MANE Select ENSP00000248114.6:p.Cys171Ser
ENST00000248114.6:c.511T>A ENSP00000248114.6:p.Cys171Ser
ENST00000565658.1:n.668T>A
ENST00000567719.1:c.286T>A ENSP00000455885.1:p.Cys96Ser
ENST00000569451.1:c.314T>A ENSP00000456432.1:p.Val105Glu
NM_005262.2:c.511T>A NP_005253.3:p.Cys171Ser
NM_005262.3:c.511T>A MANE Select NP_005253.3:p.Cys171Ser