Canonical Allele Identifier: CA2573947063

Gene: SELE FIRRM

Linked Data

• gnomAD v4: 1-169731805-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731805A>C , CM000663.2:g.169731805A>C	GRCh38
NC_000001.10:g.169700946A>C , CM000663.1:g.169700946A>C	GRCh37
NC_000001.9:g.167967570A>C	NCBI36
NG_012124.1:g.7275T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.529+30T>G (SELE) MANE Select	ENSP00000331736.7:n.529+30T>G
ENST00000333360.11:c.529+30T>G (SELE)	ENSP00000331736.7:n.529+30T>G
ENST00000367774.1:c.529+30T>G (SELE)	ENSP00000356748.1:n.529+30T>G
ENST00000367775.5:c.529+30T>G (SELE)	ENSP00000356749.1:n.529+30T>G
ENST00000367776.5:c.529+30T>G (SELE)	ENSP00000356750.1:n.529+30T>G
ENST00000367777.5:c.529+30T>G (SELE)	ENSP00000356751.1:n.529+30T>G
ENST00000461085.1:n.242T>G (SELE)
ENST00000498289.5:n.851+47873A>C (FIRRM)
NM_000450.2:c.529+30T>G (SELE) MANE Select	NP_000441.2:n.529+30T>G