Canonical Allele Identifier: CA386987954

Gene: TMEM120B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121770960T>C , CM000674.2:g.121770960T>C	GRCh38
NC_000012.11:g.122208866T>C , CM000674.1:g.122208866T>C	GRCh37
NC_000012.10:g.120693249T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001080825.2:c.605T>C MANE Select	NP_001074294.2:p.Val202Ala
ENST00000449592.7:c.605T>C MANE Select	ENSP00000404991.2:p.Val202Ala
ENST00000342607.10:c.605T>C	ENSP00000345152.6:p.Val202Ala
ENST00000449592.6:c.605T>C	ENSP00000404991.2:p.Val202Ala
ENST00000540377.1:c.-211-2461T>C	ENSP00000446159.1:n.-211-2461T>C
ENST00000541467.1:c.542T>C	ENSP00000442105.1:p.Val181Ala
XM_005253843.3:c.206T>C	XP_005253900.1:p.Val69Ala
XM_006719244.2:c.552-2461T>C	XP_006719307.1:n.552-2461T>C
XM_011537953.1:c.605T>C	XP_011536255.1:p.Val202Ala
XM_011537954.1:c.605T>C	XP_011536256.1:p.Val202Ala
XM_011537955.1:c.206T>C	XP_011536257.1:p.Val69Ala
XM_024448851.1:c.552-2461T>C	XP_024304619.1:n.552-2461T>C
XM_024448852.1:c.206T>C	XP_024304620.1:p.Val69Ala