Canonical Allele Identifier: CA4565762

Gene: TMEM176A

Linked Data

• dbSNP Id: rs540577734
• ExAC: 7:150501531 T / C
• gnomAD v2: 7-150501531-T-C
• gnomAD v3: 7-150804443-T-C
• gnomAD v4: 7-150804443-T-C
• MyVariant Identifiers: chr7:g.150501531T>C (hg19) ; chr7:g.150804443T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150804443T>C , CM000669.2:g.150804443T>C	GRCh38
NC_000007.13:g.150501531T>C , CM000669.1:g.150501531T>C	GRCh37
NC_000007.12:g.150132464T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000004103.8:c.637T>C MANE Select	ENSP00000004103.3:p.Tyr213His
ENST00000468689.2:c.460T>C	ENSP00000420081.2:p.Tyr154His
ENST00000004103.7:c.637T>C	ENSP00000004103.3:p.Tyr213His
ENST00000461345.5:c.460T>C	ENSP00000420818.1:p.Tyr154His
ENST00000462826.1:n.1778-384T>C
ENST00000474166.1:n.296T>C
ENST00000475007.5:n.533T>C
ENST00000475536.5:c.493T>C	ENSP00000417834.1:p.Tyr165His
ENST00000481305.1:n.367-384T>C
ENST00000484928.5:c.637T>C	ENSP00000417626.1:p.Tyr213His
ENST00000494349.5:n.1183T>C
NM_018487.2:c.637T>C	NP_060957.2:p.Tyr213His
XM_011516376.1:c.688T>C	XP_011514678.1:p.Tyr230His
XM_011516377.1:c.688T>C	XP_011514679.1:p.Tyr230His
XM_011516378.1:c.607-384T>C	XP_011514680.1:n.607-384T>C
XM_011516376.3:c.688T>C	XP_011514678.1:p.Tyr230His
XM_011516377.2:c.688T>C	XP_011514679.1:p.Tyr230His
XM_011516378.2:c.607-384T>C	XP_011514680.1:n.607-384T>C
XM_017012393.1:c.637T>C	XP_016867882.1:p.Tyr213His
XM_024446824.1:c.556-384T>C	XP_024302592.1:n.556-384T>C
NM_018487.3:c.637T>C MANE Select	NP_060957.2:p.Tyr213His