Canonical Allele Identifier: CA5083967
Community Standard Title: NM_017662.5(TRPM6):c.4998+9A>T
Gene: TRPM6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74752268T>A , CM000671.2:g.74752268T>A GRCh38
NC_000009.11:g.77367184T>A , CM000671.1:g.77367184T>A GRCh37
NC_000009.10:g.76557004T>A NCBI36
NG_017036.1:g.140827A>T

Transcript Alleles

HGVS Amino-acid Change
NM_017662.5:c.4998+9A>T MANE Select NP_060132.3:n.4998+9A>T
ENST00000360774.6:c.4998+9A>T MANE Select ENSP00000354006.1:n.4998+9A>T
NM_001177310.1:c.4983+9A>T NP_001170781.1:n.4983+9A>T
NM_001177310.2:c.4983+9A>T NP_001170781.1:n.4983+9A>T
NM_001177311.1:c.4983+9A>T NP_001170782.1:n.4983+9A>T
NM_001177311.2:c.4983+9A>T NP_001170782.1:n.4983+9A>T
NM_017662.4:c.4998+9A>T NP_060132.3:n.4998+9A>T
ENST00000360774.5:c.4998+9A>T ENSP00000354006.1:n.4998+9A>T
ENST00000361255.7:c.4983+9A>T ENSP00000354962.3:n.4983+9A>T
ENST00000449912.6:c.4983+9A>T ENSP00000396672.2:n.4983+9A>T
XM_011518244.1:c.4998+9A>T XP_011516546.1:n.4998+9A>T
XM_011518245.1:c.4905+9A>T XP_011516547.1:n.4905+9A>T
XM_011518246.1:c.4998+9A>T XP_011516548.1:n.4998+9A>T
XM_011518247.1:c.4869+9A>T XP_011516549.1:n.4869+9A>T
XM_011518248.1:c.4857+9A>T XP_011516550.1:n.4857+9A>T
XM_011518249.1:c.4764+9A>T XP_011516551.1:n.4764+9A>T
XM_011518250.1:c.4722+9A>T XP_011516552.1:n.4722+9A>T
XM_011518251.1:c.4269+9A>T XP_011516553.1:n.4269+9A>T
XM_011518251.2:c.4269+9A>T XP_011516553.1:n.4269+9A>T
XM_011518252.1:c.4998+9A>T XP_011516554.1:n.4998+9A>T
XM_011518252.2:c.4998+9A>T XP_011516554.1:n.4998+9A>T
XM_011518253.1:c.2931+9A>T XP_011516555.1:n.2931+9A>T
XM_017014287.1:c.4635+9A>T XP_016869776.1:n.4635+9A>T
XM_017014288.1:c.4488+9A>T XP_016869777.1:n.4488+9A>T
XR_001746185.1:n.5236+9A>T
XR_929716.1:n.5236+9A>T