Canonical Allele Identifier: CA492950227
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2035963T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985962T>C , CM000678.2:g.1985962T>C GRCh38
NC_000016.9:g.2035963T>C , CM000678.1:g.2035963T>C GRCh37
NC_000016.8:g.1975964T>C NCBI36
NG_016288.1:g.6814T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.327T>C ENSP00000455885.1:p.Pro109=
ENST00000248114.7:c.552T>C MANE Select ENSP00000248114.6:p.Pro184=
ENST00000248114.6:c.552T>C ENSP00000248114.6:p.Pro184=
ENST00000565658.1:n.709T>C
ENST00000567719.1:c.327T>C ENSP00000455885.1:p.Pro109=
ENST00000569451.1:c.*25T>C ENSP00000456432.1:n.*25T>C
NM_005262.2:c.552T>C NP_005253.3:p.Pro184=
NM_005262.3:c.552T>C MANE Select NP_005253.3:p.Pro184=
Search 100 bp 5'
Search 100 bp 3'