Canonical Allele Identifier: CA5085253

Gene: TRPM6

Linked Data

• ClinVar Variation Id: 367331
• ClinVar RCV Id: RCV000268832 ; RCV002058808
• dbSNP Id: rs201888532
• ExAC: 9:77473573 T / G
• gnomAD v2: 9-77473573-T-G
• gnomAD v3: 9-74858657-T-G
• gnomAD v4: 9-74858657-T-G
• MyVariant Identifiers: chr9:g.77473573T>G (hg19) ; chr9:g.74858657T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.74858657T>G , CM000671.2:g.74858657T>G	GRCh38
NC_000009.11:g.77473573T>G , CM000671.1:g.77473573T>G	GRCh37
NC_000009.10:g.76663393T>G	NCBI36
NG_017036.1:g.34438A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360774.6:c.113+12A>C MANE Select	ENSP00000354006.1:n.113+12A>C
ENST00000359047.2:c.113+12A>C	ENSP00000351942.2:n.113+12A>C
ENST00000360774.5:c.113+12A>C	ENSP00000354006.1:n.113+12A>C
ENST00000361255.7:c.98+12A>C	ENSP00000354962.3:n.98+12A>C
ENST00000449912.6:c.98+12A>C	ENSP00000396672.2:n.98+12A>C
NM_001177310.1:c.98+12A>C	NP_001170781.1:n.98+12A>C
NM_001177311.1:c.98+12A>C	NP_001170782.1:n.98+12A>C
NM_017662.4:c.113+12A>C	NP_060132.3:n.113+12A>C
XM_011518244.1:c.113+12A>C	XP_011516546.1:n.113+12A>C
XM_011518245.1:c.113+12A>C	XP_011516547.1:n.113+12A>C
XM_011518246.1:c.113+12A>C	XP_011516548.1:n.113+12A>C
XM_011518247.1:c.113+12A>C	XP_011516549.1:n.113+12A>C
XM_011518248.1:c.113+12A>C	XP_011516550.1:n.113+12A>C
XM_011518249.1:c.113+12A>C	XP_011516551.1:n.113+12A>C
XM_011518250.1:c.113+12A>C	XP_011516552.1:n.113+12A>C
XM_011518252.1:c.113+12A>C	XP_011516554.1:n.113+12A>C
XM_011518254.1:c.113+12A>C	XP_011516556.1:n.113+12A>C
XM_011518255.1:c.113+12A>C	XP_011516557.1:n.113+12A>C
XR_929716.1:n.351+12A>C
XR_929717.1:n.351+12A>C
XR_929718.1:n.351+12A>C
XM_011518252.2:c.113+12A>C	XP_011516554.1:n.113+12A>C
XM_011518255.2:c.113+12A>C	XP_011516557.1:n.113+12A>C
XM_017014287.1:c.113+12A>C	XP_016869776.1:n.113+12A>C
XM_017014288.1:c.113+12A>C	XP_016869777.1:n.113+12A>C
XM_017014289.1:c.113+12A>C	XP_016869778.1:n.113+12A>C
XR_001746185.1:n.351+12A>C
XR_929717.2:n.351+12A>C
NM_017662.5:c.113+12A>C MANE Select	NP_060132.3:n.113+12A>C
NM_001177310.2:c.98+12A>C	NP_001170781.1:n.98+12A>C
NM_001177311.2:c.98+12A>C	NP_001170782.1:n.98+12A>C