Canonical Allele Identifier: CA394304281
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2035953T>A (hg19) chr16:g.1985952T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.317T>A ENSP00000455885.1:p.Leu106Gln
ENST00000248114.7:c.542T>A MANE Select ENSP00000248114.6:p.Leu181Gln
ENST00000248114.6:c.542T>A ENSP00000248114.6:p.Leu181Gln
ENST00000565658.1:n.699T>A
ENST00000567719.1:c.317T>A ENSP00000455885.1:p.Leu106Gln
ENST00000569451.1:c.*15T>A ENSP00000456432.1:n.*15T>A
NM_005262.2:c.542T>A NP_005253.3:p.Leu181Gln
NM_005262.3:c.542T>A MANE Select NP_005253.3:p.Leu181Gln
Search 100 bp 5'
Search 100 bp 3'