Canonical Allele Identifier: CA2580575984

Gene: TMEM258

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61790331T>G , CM000673.2:g.61790331T>G	GRCh38
NC_000011.9:g.61557803T>G , CM000673.1:g.61557803T>G	GRCh37
NC_000011.8:g.61314379T>G	NCBI36
NG_047038.1:g.42695T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014206.4:c.113+162A>C MANE Select	NP_055021.1:n.113+162A>C
ENST00000537328.6:c.113+162A>C MANE Select	ENSP00000443216.1:n.113+162A>C
NM_014206.3:c.113+162A>C	NP_055021.1:n.113+162A>C
ENST00000257262.12:c.113+162A>C	ENSP00000257262.8:n.113+162A>C
ENST00000535042.1:n.111+162A>C
ENST00000535297.1:c.*81+44A>C	ENSP00000437809.1:n.*81+44A>C
ENST00000537328.5:c.113+162A>C	ENSP00000443216.1:n.113+162A>C
ENST00000540434.1:n.319A>C
ENST00000541893.5:c.*33+92A>C	ENSP00000441836.1:n.*33+92A>C
ENST00000543510.1:c.98+162A>C	ENSP00000443836.1:n.98+162A>C
ENST00000545210.5:c.*81+44A>C	ENSP00000445404.1:n.*81+44A>C