Canonical Allele Identifier: CA408176189

Gene: FERMT1

Linked Data

• MyVariant Identifiers: chr20:g.6060105T>A (hg19) ; chr20:g.6079458T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6079458T>A , CM000682.2:g.6079458T>A	GRCh38
NC_000020.10:g.6060105T>A , CM000682.1:g.6060105T>A	GRCh37
NC_000020.9:g.6008105T>A	NCBI36
NG_016213.1:g.49087A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699095.1:c.1838A>T	ENSP00000514127.1:p.Asn613Ile
ENST00000217289.9:c.1838A>T MANE Select	ENSP00000217289.4:p.Asn613Ile
ENST00000217289.8:c.1838A>T	ENSP00000217289.4:p.Asn613Ile
ENST00000478194.1:n.798A>T
ENST00000536936.1:c.1067A>T	ENSP00000441063.1:p.Asn356Ile
NM_017671.4:c.1838A>T	NP_060141.3:p.Asn613Ile
XM_024451935.1:c.1838A>T	XP_024307703.1:p.Asn613Ile
NM_017671.5:c.1838A>T MANE Select	NP_060141.3:p.Asn613Ile