Canonical Allele Identifier: CA13850280
Community Standard Title: NM_001922.5(DCT):c.1180-122A>G
Gene: DCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.94443759T>C , CM000675.2:g.94443759T>C GRCh38
NC_000013.10:g.95096013T>C , CM000675.1:g.95096013T>C GRCh37
NC_000013.9:g.93894014T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001922.5:c.1180-122A>G MANE Select NP_001913.2:n.1180-122A>G
ENST00000377028.10:c.1180-122A>G MANE Select ENSP00000366227.4:n.1180-122A>G
NM_001129889.1:c.1279-122A>G NP_001123361.1:n.1279-122A>G
NM_001129889.2:c.1279-122A>G NP_001123361.1:n.1279-122A>G
NM_001129889.3:c.1279-122A>G NP_001123361.1:n.1279-122A>G
NM_001322182.1:c.247-122A>G NP_001309111.1:n.247-122A>G
NM_001322182.2:c.247-122A>G NP_001309111.1:n.247-122A>G
NM_001322183.1:c.247-122A>G NP_001309112.1:n.247-122A>G
NM_001322183.2:c.247-122A>G NP_001309112.1:n.247-122A>G
NM_001322184.1:c.247-122A>G NP_001309113.1:n.247-122A>G
NM_001322184.2:c.247-122A>G NP_001309113.1:n.247-122A>G
NM_001322185.1:c.247-122A>G NP_001309114.1:n.247-122A>G
NM_001322185.2:c.247-122A>G NP_001309114.1:n.247-122A>G
NM_001322186.1:c.991-122A>G NP_001309115.1:n.991-122A>G
NM_001322186.2:c.991-122A>G NP_001309115.1:n.991-122A>G
NM_001922.3:c.1180-122A>G NP_001913.2:n.1180-122A>G
NM_001922.4:c.1180-122A>G NP_001913.2:n.1180-122A>G
ENST00000377028.9:c.1180-122A>G ENSP00000366227.4:n.1180-122A>G
ENST00000446125.1:c.1279-122A>G ENSP00000392762.1:n.1279-122A>G
ENST00000483392.6:c.757-122A>G ENSP00000431275.2:n.757-122A>G
XM_011521049.1:c.991-122A>G XP_011519351.1:n.991-122A>G
XM_011521049.2:c.991-122A>G XP_011519351.1:n.991-122A>G
XM_011521050.1:c.991-122A>G XP_011519352.1:n.991-122A>G
XM_017020401.2:c.1309-122A>G XP_016875890.1:n.1309-122A>G
XM_024449328.1:c.247-122A>G XP_024305096.1:n.247-122A>G
XR_002957452.1:n.1490-122A>G
XR_931610.1:n.1685-122A>G