Canonical Allele Identifier: CA276773592
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs889082052
MyVariant Identifiers: chr16:g.2036022G>C (hg19) chr16:g.1986021G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986021G>C , CM000678.2:g.1986021G>C GRCh38
NC_000016.9:g.2036022G>C , CM000678.1:g.2036022G>C GRCh37
NC_000016.8:g.1976023G>C NCBI36
NG_016288.1:g.6873G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.386G>C ENSP00000455885.1:p.Cys129Ser
ENST00000248114.7:c.611G>C MANE Select ENSP00000248114.6:p.Cys204Ser
ENST00000248114.6:c.611G>C ENSP00000248114.6:p.Cys204Ser
ENST00000565658.1:n.768G>C
ENST00000567719.1:c.386G>C ENSP00000455885.1:p.Cys129Ser
ENST00000569451.1:c.*84G>C ENSP00000456432.1:n.*84G>C
NM_005262.2:c.611G>C NP_005253.3:p.Cys204Ser
NM_005262.3:c.611G>C MANE Select NP_005253.3:p.Cys204Ser
Search 100 bp 5'
Search 100 bp 3'