Canonical Allele Identifier: CA1236366

Gene: SELE FIRRM

Linked Data

• dbSNP Id: rs769583218
• ExAC: 1:169701069 T / C
• gnomAD v2: 1-169701069-T-C
• gnomAD v4: 1-169731928-T-C
• MyVariant Identifiers: chr1:g.169701069T>C (hg19) ; chr1:g.169731928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731928T>C , CM000663.2:g.169731928T>C	GRCh38
NC_000001.10:g.169701069T>C , CM000663.1:g.169701069T>C	GRCh37
NC_000001.9:g.167967693T>C	NCBI36
NG_012124.1:g.7152A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.436A>G (SELE) MANE Select	ENSP00000331736.7:p.Thr146Ala
ENST00000333360.11:c.436A>G (SELE)	ENSP00000331736.7:p.Thr146Ala
ENST00000367774.1:c.436A>G (SELE)	ENSP00000356748.1:p.Thr146Ala
ENST00000367775.5:c.436A>G (SELE)	ENSP00000356749.1:p.Thr146Ala
ENST00000367776.5:c.436A>G (SELE)	ENSP00000356750.1:p.Thr146Ala
ENST00000367777.5:c.436A>G (SELE)	ENSP00000356751.1:p.Thr146Ala
ENST00000461085.1:n.119A>G (SELE)
ENST00000498289.5:n.851+47996T>C (FIRRM)
NM_000450.2:c.436A>G (SELE) MANE Select	NP_000441.2:p.Thr146Ala