Canonical Allele Identifier: CA394304285
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2035953T>G (hg19) chr16:g.1985952T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985952T>G , CM000678.2:g.1985952T>G GRCh38
NC_000016.9:g.2035953T>G , CM000678.1:g.2035953T>G GRCh37
NC_000016.8:g.1975954T>G NCBI36
NG_016288.1:g.6804T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.317T>G ENSP00000455885.1:p.Leu106Arg
ENST00000248114.7:c.542T>G MANE Select ENSP00000248114.6:p.Leu181Arg
ENST00000248114.6:c.542T>G ENSP00000248114.6:p.Leu181Arg
ENST00000565658.1:n.699T>G
ENST00000567719.1:c.317T>G ENSP00000455885.1:p.Leu106Arg
ENST00000569451.1:c.*15T>G ENSP00000456432.1:n.*15T>G
NM_005262.2:c.542T>G NP_005253.3:p.Leu181Arg
NM_005262.3:c.542T>G MANE Select NP_005253.3:p.Leu181Arg
Search 100 bp 5'
Search 100 bp 3'