Canonical Allele Identifier: CA394304349
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2035961C>G (hg19) chr16:g.1985960C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985960C>G , CM000678.2:g.1985960C>G GRCh38
NC_000016.9:g.2035961C>G , CM000678.1:g.2035961C>G GRCh37
NC_000016.8:g.1975962C>G NCBI36
NG_016288.1:g.6812C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.325C>G ENSP00000455885.1:p.Pro109Ala
ENST00000248114.7:c.550C>G MANE Select ENSP00000248114.6:p.Pro184Ala
ENST00000248114.6:c.550C>G ENSP00000248114.6:p.Pro184Ala
ENST00000565658.1:n.707C>G
ENST00000567719.1:c.325C>G ENSP00000455885.1:p.Pro109Ala
ENST00000569451.1:c.*23C>G ENSP00000456432.1:n.*23C>G
NM_005262.2:c.550C>G NP_005253.3:p.Pro184Ala
NM_005262.3:c.550C>G MANE Select NP_005253.3:p.Pro184Ala
Search 100 bp 5'
Search 100 bp 3'