Canonical Allele Identifier: CA394303742
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2035883C>A (hg19) chr16:g.1985882C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985882C>A , CM000678.2:g.1985882C>A GRCh38
NC_000016.9:g.2035883C>A , CM000678.1:g.2035883C>A GRCh37
NC_000016.8:g.1975884C>A NCBI36
NG_016288.1:g.6734C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.247C>A ENSP00000455885.1:p.Pro83Thr
ENST00000248114.7:c.472C>A MANE Select ENSP00000248114.6:p.Pro158Thr
ENST00000248114.6:c.472C>A ENSP00000248114.6:p.Pro158Thr
ENST00000565658.1:n.629C>A
ENST00000567719.1:c.247C>A ENSP00000455885.1:p.Pro83Thr
ENST00000569451.1:c.275C>A ENSP00000456432.1:p.Pro92His
NM_005262.2:c.472C>A NP_005253.3:p.Pro158Thr
NM_005262.3:c.472C>A MANE Select NP_005253.3:p.Pro158Thr
Search 100 bp 5'
Search 100 bp 3'