Canonical Allele Identifier: CA1206216926

Gene: SELE FIRRM

Linked Data

• dbSNP Id: rs1648916979
• gnomAD v4: 1-169731759-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731759C>T , CM000663.2:g.169731759C>T	GRCh38
NC_000001.10:g.169700900C>T , CM000663.1:g.169700900C>T	GRCh37
NC_000001.9:g.167967524C>T	NCBI36
NG_012124.1:g.7321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.529+76G>A (SELE) MANE Select	ENSP00000331736.7:n.529+76G>A
ENST00000333360.11:c.529+76G>A (SELE)	ENSP00000331736.7:n.529+76G>A
ENST00000367774.1:c.529+76G>A (SELE)	ENSP00000356748.1:n.529+76G>A
ENST00000367775.5:c.529+76G>A (SELE)	ENSP00000356749.1:n.529+76G>A
ENST00000367776.5:c.529+76G>A (SELE)	ENSP00000356750.1:n.529+76G>A
ENST00000367777.5:c.529+76G>A (SELE)	ENSP00000356751.1:n.529+76G>A
ENST00000461085.1:n.288G>A (SELE)
ENST00000498289.5:n.851+47827C>T (FIRRM)
NM_000450.2:c.529+76G>A (SELE) MANE Select	NP_000441.2:n.529+76G>A