Canonical Allele Identifier: CA458642918

Gene: TMEM176A

Linked Data

• gnomAD v4: 7-150804391-C-G
• MyVariant Identifiers: chr7:g.150501479C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150804391C>G , CM000669.2:g.150804391C>G	GRCh38
NC_000007.13:g.150501479C>G , CM000669.1:g.150501479C>G	GRCh37
NC_000007.12:g.150132412C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000004103.8:c.585C>G MANE Select	ENSP00000004103.3:p.Leu195=
ENST00000468689.2:c.408C>G	ENSP00000420081.2:p.Leu136=
ENST00000004103.7:c.585C>G	ENSP00000004103.3:p.Leu195=
ENST00000461345.5:c.408C>G	ENSP00000420818.1:p.Leu136=
ENST00000462826.1:n.1778-436C>G
ENST00000474166.1:n.244C>G
ENST00000475007.5:n.481C>G
ENST00000475536.5:c.441C>G	ENSP00000417834.1:p.Leu147=
ENST00000481305.1:n.367-436C>G
ENST00000484928.5:c.585C>G	ENSP00000417626.1:p.Leu195=
ENST00000494349.5:n.1131C>G
NM_018487.2:c.585C>G	NP_060957.2:p.Leu195=
XM_011516376.1:c.636C>G	XP_011514678.1:p.Leu212=
XM_011516377.1:c.636C>G	XP_011514679.1:p.Leu212=
XM_011516378.1:c.607-436C>G	XP_011514680.1:n.607-436C>G
XM_011516376.3:c.636C>G	XP_011514678.1:p.Leu212=
XM_011516377.2:c.636C>G	XP_011514679.1:p.Leu212=
XM_011516378.2:c.607-436C>G	XP_011514680.1:n.607-436C>G
XM_017012393.1:c.585C>G	XP_016867882.1:p.Leu195=
XM_024446824.1:c.556-436C>G	XP_024302592.1:n.556-436C>G
NM_018487.3:c.585C>G MANE Select	NP_060957.2:p.Leu195=