Canonical Allele Identifier: CA373772981
Gene: TRPM6 HGNC NCBI

Linked Data

dbSNP Id: rs1352948834
gnomAD v2: 9-77455027-A-C
gnomAD v4: 9-74840111-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74840111A>C , CM000671.2:g.74840111A>C GRCh38
NC_000009.11:g.77455027A>C , CM000671.1:g.77455027A>C GRCh37
NC_000009.10:g.76644847A>C NCBI36
NG_017036.1:g.52984T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360774.6:c.457T>G MANE Select ENSP00000354006.1:p.Ser153Ala
ENST00000359047.2:c.457T>G ENSP00000351942.2:p.Ser153Ala
ENST00000360774.5:c.457T>G ENSP00000354006.1:p.Ser153Ala
ENST00000361255.7:c.442T>G ENSP00000354962.3:p.Ser148Ala
ENST00000449912.6:c.442T>G ENSP00000396672.2:p.Ser148Ala
NM_001177310.1:c.442T>G NP_001170781.1:p.Ser148Ala
NM_001177311.1:c.442T>G NP_001170782.1:p.Ser148Ala
NM_017662.4:c.457T>G NP_060132.3:p.Ser153Ala
XM_011518244.1:c.457T>G XP_011516546.1:p.Ser153Ala
XM_011518245.1:c.457T>G XP_011516547.1:p.Ser153Ala
XM_011518246.1:c.457T>G XP_011516548.1:p.Ser153Ala
XM_011518247.1:c.457T>G XP_011516549.1:p.Ser153Ala
XM_011518248.1:c.457T>G XP_011516550.1:p.Ser153Ala
XM_011518249.1:c.457T>G XP_011516551.1:p.Ser153Ala
XM_011518250.1:c.457T>G XP_011516552.1:p.Ser153Ala
XM_011518252.1:c.457T>G XP_011516554.1:p.Ser153Ala
XM_011518254.1:c.457T>G XP_011516556.1:p.Ser153Ala
XM_011518255.1:c.457T>G XP_011516557.1:p.Ser153Ala
XR_929716.1:n.695T>G
XR_929717.1:n.695T>G
XR_929718.1:n.695T>G
XM_011518252.2:c.457T>G XP_011516554.1:p.Ser153Ala
XM_011518255.2:c.457T>G XP_011516557.1:p.Ser153Ala
XM_017014287.1:c.457T>G XP_016869776.1:p.Ser153Ala
XM_017014288.1:c.457T>G XP_016869777.1:p.Ser153Ala
XM_017014289.1:c.457T>G XP_016869778.1:p.Ser153Ala
XR_001746185.1:n.695T>G
XR_929717.2:n.695T>G
NM_017662.5:c.457T>G MANE Select NP_060132.3:p.Ser153Ala
NM_001177310.2:c.442T>G NP_001170781.1:p.Ser148Ala
NM_001177311.2:c.442T>G NP_001170782.1:p.Ser148Ala