Canonical Allele Identifier: CA394304530
Gene: GFER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985980A>C , CM000678.2:g.1985980A>C GRCh38
NC_000016.9:g.2035981A>C , CM000678.1:g.2035981A>C GRCh37
NC_000016.8:g.1975982A>C NCBI36
NG_016288.1:g.6832A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.345A>C ENSP00000455885.1:p.Lys115Asn
ENST00000248114.7:c.570A>C MANE Select ENSP00000248114.6:p.Lys190Asn
ENST00000248114.6:c.570A>C ENSP00000248114.6:p.Lys190Asn
ENST00000565658.1:n.727A>C
ENST00000567719.1:c.345A>C ENSP00000455885.1:p.Lys115Asn
ENST00000569451.1:c.*43A>C ENSP00000456432.1:n.*43A>C
NM_005262.2:c.570A>C NP_005253.3:p.Lys190Asn
NM_005262.3:c.570A>C MANE Select NP_005253.3:p.Lys190Asn