Canonical Allele Identifier: CA394304093
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2035931C>A (hg19) chr16:g.1985930C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985930C>A , CM000678.2:g.1985930C>A GRCh38
NC_000016.9:g.2035931C>A , CM000678.1:g.2035931C>A GRCh37
NC_000016.8:g.1975932C>A NCBI36
NG_016288.1:g.6782C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.295C>A ENSP00000455885.1:p.His99Asn
ENST00000248114.7:c.520C>A MANE Select ENSP00000248114.6:p.His174Asn
ENST00000248114.6:c.520C>A ENSP00000248114.6:p.His174Asn
ENST00000565658.1:n.677C>A
ENST00000567719.1:c.295C>A ENSP00000455885.1:p.His99Asn
ENST00000569451.1:c.323C>A ENSP00000456432.1:p.Ala108Glu
NM_005262.2:c.520C>A NP_005253.3:p.His174Asn
NM_005262.3:c.520C>A MANE Select NP_005253.3:p.His174Asn
Search 100 bp 5'
Search 100 bp 3'