Canonical Allele Identifier: CA351536147

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14180713A>T (hg19) ; chr3:g.14139213A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14139213A>T , CM000665.2:g.14139213A>T	GRCh38
NC_000003.11:g.14180713A>T , CM000665.1:g.14180713A>T	GRCh37
NC_000003.10:g.14155714A>T	NCBI36
NG_008975.1:g.19274A>T , LRG_435:g.19274A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*946A>T	ENSP00000395617.1:n.*946A>T
ENST00000306077.5:c.916A>T MANE Select	ENSP00000303992.5:p.Met306Leu
ENST00000306077.4:c.916A>T	ENSP00000303992.4:p.Met306Leu
ENST00000601399.3:n.243A>T
ENST00000608606.1:c.152A>T
NM_024334.2:c.916A>T , LRG_435t1:c.916A>T	NP_077310.1:p.Met306Leu
XM_011534109.1:c.811A>T	XP_011532411.1:p.Met271Leu
XM_017007176.2:c.811A>T	XP_016862665.1:p.Met271Leu
NM_024334.3:c.916A>T MANE Select	NP_077310.1:p.Met306Leu