Canonical Allele Identifier: CA394303669
Gene: GFER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985871G>C , CM000678.2:g.1985871G>C GRCh38
NC_000016.9:g.2035872G>C , CM000678.1:g.2035872G>C GRCh37
NC_000016.8:g.1975873G>C NCBI36
NG_016288.1:g.6723G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.236G>C ENSP00000455885.1:p.Cys79Ser
ENST00000248114.7:c.461G>C MANE Select ENSP00000248114.6:p.Cys154Ser
ENST00000248114.6:c.461G>C ENSP00000248114.6:p.Cys154Ser
ENST00000565658.1:n.618G>C
ENST00000567719.1:c.236G>C ENSP00000455885.1:p.Cys79Ser
ENST00000569451.1:c.264G>C ENSP00000456432.1:p.Val88=
NM_005262.2:c.461G>C NP_005253.3:p.Cys154Ser
NM_005262.3:c.461G>C MANE Select NP_005253.3:p.Cys154Ser