Canonical Allele Identifier: CA408182135
Gene: FERMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1251345414
gnomAD v2: 20-6077550-A-G
gnomAD v3: 20-6096903-A-G
gnomAD v4: 20-6096903-A-G
MyVariant Identifiers: chr20:g.6077550A>G (hg19) chr20:g.6096903A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6096903A>G , CM000682.2:g.6096903A>G GRCh38
NC_000020.10:g.6077550A>G , CM000682.1:g.6077550A>G GRCh37
NC_000020.9:g.6025550A>G NCBI36
NG_016213.1:g.31642T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699095.1:c.1088T>C ENSP00000514127.1:p.Leu363Ser
ENST00000699096.1:n.1550T>C
ENST00000699097.1:n.258T>C
ENST00000217289.9:c.1088T>C MANE Select ENSP00000217289.4:p.Leu363Ser
ENST00000217289.8:c.1088T>C ENSP00000217289.4:p.Leu363Ser
ENST00000536936.1:c.317T>C ENSP00000441063.1:p.Leu106Ser
NM_017671.4:c.1088T>C NP_060141.3:p.Leu363Ser
XM_024451935.1:c.1088T>C XP_024307703.1:p.Leu363Ser
NM_017671.5:c.1088T>C MANE Select NP_060141.3:p.Leu363Ser
Search 100 bp 5'
Search 100 bp 3'