Canonical Allele Identifier: CA458642963

Gene: TMEM176A

Linked Data

• dbSNP Id: rs1236613461
• gnomAD v2: 7-150501528-C-T
• gnomAD v3: 7-150804440-C-T
• gnomAD v4: 7-150804440-C-T
• MyVariant Identifiers: chr7:g.150501528C>T (hg19) ; chr7:g.150804440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150804440C>T , CM000669.2:g.150804440C>T	GRCh38
NC_000007.13:g.150501528C>T , CM000669.1:g.150501528C>T	GRCh37
NC_000007.12:g.150132461C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000004103.8:c.634C>T MANE Select	ENSP00000004103.3:p.Leu212=
ENST00000468689.2:c.457C>T	ENSP00000420081.2:p.Leu153=
ENST00000004103.7:c.634C>T	ENSP00000004103.3:p.Leu212=
ENST00000461345.5:c.457C>T	ENSP00000420818.1:p.Leu153=
ENST00000462826.1:n.1778-387C>T
ENST00000474166.1:n.293C>T
ENST00000475007.5:n.530C>T
ENST00000475536.5:c.490C>T	ENSP00000417834.1:p.Leu164=
ENST00000481305.1:n.367-387C>T
ENST00000484928.5:c.634C>T	ENSP00000417626.1:p.Leu212=
ENST00000494349.5:n.1180C>T
NM_018487.2:c.634C>T	NP_060957.2:p.Leu212=
XM_011516376.1:c.685C>T	XP_011514678.1:p.Leu229=
XM_011516377.1:c.685C>T	XP_011514679.1:p.Leu229=
XM_011516378.1:c.607-387C>T	XP_011514680.1:n.607-387C>T
XM_011516376.3:c.685C>T	XP_011514678.1:p.Leu229=
XM_011516377.2:c.685C>T	XP_011514679.1:p.Leu229=
XM_011516378.2:c.607-387C>T	XP_011514680.1:n.607-387C>T
XM_017012393.1:c.634C>T	XP_016867882.1:p.Leu212=
XM_024446824.1:c.556-387C>T	XP_024302592.1:n.556-387C>T
NM_018487.3:c.634C>T MANE Select	NP_060957.2:p.Leu212=