Canonical Allele Identifier: CA369842970

Gene: TMEM176A

Linked Data

• MyVariant Identifiers: chr7:g.150501466T>G (hg19) ; chr7:g.150804378T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150804378T>G , CM000669.2:g.150804378T>G	GRCh38
NC_000007.13:g.150501466T>G , CM000669.1:g.150501466T>G	GRCh37
NC_000007.12:g.150132399T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000004103.8:c.572T>G MANE Select	ENSP00000004103.3:p.Leu191Arg
ENST00000468689.2:c.395T>G	ENSP00000420081.2:p.Leu132Arg
ENST00000004103.7:c.572T>G	ENSP00000004103.3:p.Leu191Arg
ENST00000461345.5:c.395T>G	ENSP00000420818.1:p.Leu132Arg
ENST00000462826.1:n.1778-449T>G
ENST00000474166.1:n.231T>G
ENST00000475007.5:n.468T>G
ENST00000475536.5:c.428T>G	ENSP00000417834.1:p.Leu143Arg
ENST00000481305.1:n.367-449T>G
ENST00000484928.5:c.572T>G	ENSP00000417626.1:p.Leu191Arg
ENST00000494349.5:n.1118T>G
NM_018487.2:c.572T>G	NP_060957.2:p.Leu191Arg
XM_011516376.1:c.623T>G	XP_011514678.1:p.Leu208Arg
XM_011516377.1:c.623T>G	XP_011514679.1:p.Leu208Arg
XM_011516378.1:c.607-449T>G	XP_011514680.1:n.607-449T>G
XM_011516376.3:c.623T>G	XP_011514678.1:p.Leu208Arg
XM_011516377.2:c.623T>G	XP_011514679.1:p.Leu208Arg
XM_011516378.2:c.607-449T>G	XP_011514680.1:n.607-449T>G
XM_017012393.1:c.572T>G	XP_016867882.1:p.Leu191Arg
XM_024446824.1:c.556-449T>G	XP_024302592.1:n.556-449T>G
NM_018487.3:c.572T>G MANE Select	NP_060957.2:p.Leu191Arg