Canonical Allele Identifier: CA32482871

Gene: SELE FIRRM

Linked Data

• dbSNP Id: rs1030802058
• gnomAD v2: 1-169700987-T-G
• gnomAD v3: 1-169731846-T-G
• gnomAD v4: 1-169731846-T-G
• MyVariant Identifiers: chr1:g.169700987T>G (hg19) ; chr1:g.169731846T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731846T>G , CM000663.2:g.169731846T>G	GRCh38
NC_000001.10:g.169700987T>G , CM000663.1:g.169700987T>G	GRCh37
NC_000001.9:g.167967611T>G	NCBI36
NG_012124.1:g.7234A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333360.12:c.518A>C (SELE) MANE Select	ENSP00000331736.7:p.Lys173Thr
ENST00000333360.11:c.518A>C (SELE)	ENSP00000331736.7:p.Lys173Thr
ENST00000367774.1:c.518A>C (SELE)	ENSP00000356748.1:p.Lys173Thr
ENST00000367775.5:c.518A>C (SELE)	ENSP00000356749.1:p.Lys173Thr
ENST00000367776.5:c.518A>C (SELE)	ENSP00000356750.1:p.Lys173Thr
ENST00000367777.5:c.518A>C (SELE)	ENSP00000356751.1:p.Lys173Thr
ENST00000461085.1:n.201A>C (SELE)
ENST00000498289.5:n.851+47914T>G (FIRRM)
NM_000450.2:c.518A>C (SELE) MANE Select	NP_000441.2:p.Lys173Thr