Canonical Allele Identifier: CA343154765

Gene: SELE FIRRM

Linked Data

• MyVariant Identifiers: chr1:g.169700990A>T (hg19) ; chr1:g.169731849A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731849A>T , CM000663.2:g.169731849A>T	GRCh38
NC_000001.10:g.169700990A>T , CM000663.1:g.169700990A>T	GRCh37
NC_000001.9:g.167967614A>T	NCBI36
NG_012124.1:g.7231T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.515T>A (SELE) MANE Select	ENSP00000331736.7:p.Leu172His
ENST00000333360.11:c.515T>A (SELE)	ENSP00000331736.7:p.Leu172His
ENST00000367774.1:c.515T>A (SELE)	ENSP00000356748.1:p.Leu172His
ENST00000367775.5:c.515T>A (SELE)	ENSP00000356749.1:p.Leu172His
ENST00000367776.5:c.515T>A (SELE)	ENSP00000356750.1:p.Leu172His
ENST00000367777.5:c.515T>A (SELE)	ENSP00000356751.1:p.Leu172His
ENST00000461085.1:n.198T>A (SELE)
ENST00000498289.5:n.851+47917A>T (FIRRM)
NM_000450.2:c.515T>A (SELE) MANE Select	NP_000441.2:p.Leu172His