Canonical Allele Identifier: CA2577516631

Gene: TMEM43

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141524C>T , CM000665.2:g.14141524C>T	GRCh38
NC_000003.11:g.14183024C>T , CM000665.1:g.14183024C>T	GRCh37
NC_000003.10:g.14158025C>T	NCBI36
NG_008975.1:g.21585C>T , LRG_435:g.21585C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*1031-69C>T	ENSP00000395617.1:n.*1031-69C>T
ENST00000306077.5:c.1001-69C>T MANE Select	ENSP00000303992.5:n.1001-69C>T
ENST00000306077.4:c.1001-69C>T	ENSP00000303992.4:n.1001-69C>T
ENST00000601399.3:n.327+2227C>T
ENST00000608606.1:c.236+2227C>T
NM_024334.2:c.1001-69C>T , LRG_435t1:c.1001-69C>T	NP_077310.1:n.1001-69C>T
XM_011534109.1:c.896-69C>T	XP_011532411.1:n.896-69C>T
XM_017007176.2:c.896-69C>T	XP_016862665.1:n.896-69C>T
NM_024334.3:c.1001-69C>T MANE Select	NP_077310.1:n.1001-69C>T