Canonical Allele Identifier: CA588442943
Gene: TRPM6 HGNC NCBI

Linked Data

dbSNP Id: rs1330786742
gnomAD v2: 9-77397232-C-G
gnomAD v3: 9-74782316-C-G
gnomAD v4: 9-74782316-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74782316C>G , CM000671.2:g.74782316C>G GRCh38
NC_000009.11:g.77397232C>G , CM000671.1:g.77397232C>G GRCh37
NC_000009.10:g.76587052C>G NCBI36
NG_017036.1:g.110779G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360774.6:c.3209+46G>C MANE Select ENSP00000354006.1:n.3209+46G>C
ENST00000360774.5:c.3209+46G>C ENSP00000354006.1:n.3209+46G>C
ENST00000361255.7:c.3194+46G>C ENSP00000354962.3:n.3194+46G>C
ENST00000449912.6:c.3194+46G>C ENSP00000396672.2:n.3194+46G>C
NM_001177310.1:c.3194+46G>C NP_001170781.1:n.3194+46G>C
NM_001177311.1:c.3194+46G>C NP_001170782.1:n.3194+46G>C
NM_017662.4:c.3209+46G>C NP_060132.3:n.3209+46G>C
XM_011518244.1:c.3209+46G>C XP_011516546.1:n.3209+46G>C
XM_011518245.1:c.3116+46G>C XP_011516547.1:n.3116+46G>C
XM_011518246.1:c.3209+46G>C XP_011516548.1:n.3209+46G>C
XM_011518247.1:c.3080+46G>C XP_011516549.1:n.3080+46G>C
XM_011518248.1:c.3068+46G>C XP_011516550.1:n.3068+46G>C
XM_011518249.1:c.2975+46G>C XP_011516551.1:n.2975+46G>C
XM_011518250.1:c.2933+46G>C XP_011516552.1:n.2933+46G>C
XM_011518251.1:c.2480+46G>C XP_011516553.1:n.2480+46G>C
XM_011518252.1:c.3209+46G>C XP_011516554.1:n.3209+46G>C
XM_011518253.1:c.1142+46G>C XP_011516555.1:n.1142+46G>C
XM_011518254.1:c.3209+46G>C XP_011516556.1:n.3209+46G>C
XM_011518255.1:c.3209+46G>C XP_011516557.1:n.3209+46G>C
XR_929716.1:n.3447+46G>C
XR_929717.1:n.3447+46G>C
XR_929718.1:n.3332+363G>C
XM_011518251.2:c.2480+46G>C XP_011516553.1:n.2480+46G>C
XM_011518252.2:c.3209+46G>C XP_011516554.1:n.3209+46G>C
XM_011518255.2:c.3209+46G>C XP_011516557.1:n.3209+46G>C
XM_017014287.1:c.2846+46G>C XP_016869776.1:n.2846+46G>C
XM_017014288.1:c.2699+46G>C XP_016869777.1:n.2699+46G>C
XM_017014289.1:c.3209+46G>C XP_016869778.1:n.3209+46G>C
XR_001746185.1:n.3447+46G>C
XR_929717.2:n.3447+46G>C
NM_017662.5:c.3209+46G>C MANE Select NP_060132.3:n.3209+46G>C
NM_001177310.2:c.3194+46G>C NP_001170781.1:n.3194+46G>C
NM_001177311.2:c.3194+46G>C NP_001170782.1:n.3194+46G>C