Canonical Allele Identifier: CA343155214

Gene: SELE FIRRM

Linked Data

• dbSNP Id: rs5361
• gnomAD v2: 1-169701060-T-A
• gnomAD v4: 1-169731919-T-A
• MyVariant Identifiers: chr1:g.169701060T>A (hg19) ; chr1:g.169701060_169701061delinsAG (hg19) ; chr1:g.169731919T>A (hg38) ; chr1:g.169731919_169731920delinsAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731919T>A , CM000663.2:g.169731919T>A	GRCh38
NC_000001.10:g.169701060T>A , CM000663.1:g.169701060T>A	GRCh37
NC_000001.9:g.167967684T>A	NCBI36
NG_012124.1:g.7161A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333360.12:c.445A>T (SELE) MANE Select	ENSP00000331736.7:p.Ser149Cys
ENST00000333360.11:c.445A>T (SELE)	ENSP00000331736.7:p.Ser149Cys
ENST00000367774.1:c.445A>T (SELE)	ENSP00000356748.1:p.Ser149Cys
ENST00000367775.5:c.445A>T (SELE)	ENSP00000356749.1:p.Ser149Cys
ENST00000367776.5:c.445A>T (SELE)	ENSP00000356750.1:p.Ser149Cys
ENST00000367777.5:c.445A>T (SELE)	ENSP00000356751.1:p.Ser149Cys
ENST00000461085.1:n.128A>T (SELE)
ENST00000498289.5:n.851+47987T>A (FIRRM)
NM_000450.2:c.445A>T (SELE) MANE Select	NP_000441.2:p.Ser149Cys