Canonical Allele Identifier: CA492950322
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2036020C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986019C>A , CM000678.2:g.1986019C>A GRCh38
NC_000016.9:g.2036020C>A , CM000678.1:g.2036020C>A GRCh37
NC_000016.8:g.1976021C>A NCBI36
NG_016288.1:g.6871C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.384C>A ENSP00000455885.1:p.Ser128=
ENST00000248114.7:c.609C>A MANE Select ENSP00000248114.6:p.Ser203=
ENST00000248114.6:c.609C>A ENSP00000248114.6:p.Ser203=
ENST00000565658.1:n.766C>A
ENST00000567719.1:c.384C>A ENSP00000455885.1:p.Ser128=
ENST00000569451.1:c.*82C>A ENSP00000456432.1:n.*82C>A
NM_005262.2:c.609C>A NP_005253.3:p.Ser203=
NM_005262.3:c.609C>A MANE Select NP_005253.3:p.Ser203=