Canonical Allele Identifier: CA432552544

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14180712C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14139212C>T , CM000665.2:g.14139212C>T	GRCh38
NC_000003.11:g.14180712C>T , CM000665.1:g.14180712C>T	GRCh37
NC_000003.10:g.14155713C>T	NCBI36
NG_008975.1:g.19273C>T , LRG_435:g.19273C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*945C>T	ENSP00000395617.1:n.*945C>T
ENST00000306077.5:c.915C>T MANE Select	ENSP00000303992.5:p.Ser305=
ENST00000306077.4:c.915C>T	ENSP00000303992.4:p.Ser305=
ENST00000601399.3:n.242C>T
ENST00000608606.1:c.151C>T
NM_024334.2:c.915C>T , LRG_435t1:c.915C>T	NP_077310.1:p.Ser305=
XM_011534109.1:c.810C>T	XP_011532411.1:p.Ser270=
XM_017007176.2:c.810C>T	XP_016862665.1:p.Ser270=
NM_024334.3:c.915C>T MANE Select	NP_077310.1:p.Ser305=