Canonical Allele Identifier: CA492950125
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2035885A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985884A>C , CM000678.2:g.1985884A>C GRCh38
NC_000016.9:g.2035885A>C , CM000678.1:g.2035885A>C GRCh37
NC_000016.8:g.1975886A>C NCBI36
NG_016288.1:g.6736A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.249A>C ENSP00000455885.1:p.Pro83=
ENST00000248114.7:c.474A>C MANE Select ENSP00000248114.6:p.Pro158=
ENST00000248114.6:c.474A>C ENSP00000248114.6:p.Pro158=
ENST00000565658.1:n.631A>C
ENST00000567719.1:c.249A>C ENSP00000455885.1:p.Pro83=
ENST00000569451.1:c.277A>C ENSP00000456432.1:p.Arg93=
NM_005262.2:c.474A>C NP_005253.3:p.Pro158=
NM_005262.3:c.474A>C MANE Select NP_005253.3:p.Pro158=