Canonical Allele Identifier: CA7017299

Gene: DCT

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.94440051C>T , CM000675.2:g.94440051C>T	GRCh38
NC_000013.10:g.95092305C>T , CM000675.1:g.95092305C>T	GRCh37
NC_000013.9:g.93890306C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377028.10:c.1407G>A MANE Select	ENSP00000366227.4:p.Trp469Ter
ENST00000377028.9:c.1407G>A	ENSP00000366227.4:p.Trp469Ter
ENST00000446125.1:c.1506G>A	ENSP00000392762.1:p.Trp502Ter
ENST00000483392.6:c.984G>A	ENSP00000431275.2:n.984G>A
NM_001129889.1:c.1506G>A	NP_001123361.1:p.Trp502Ter
NM_001922.3:c.1407G>A	NP_001913.2:p.Trp469Ter
XM_011521049.1:c.1218G>A	XP_011519351.1:p.Trp406Ter
XM_011521050.1:c.1218G>A	XP_011519352.1:p.Trp406Ter
XR_931610.1:n.1912G>A
NM_001129889.2:c.1506G>A	NP_001123361.1:p.Trp502Ter
NM_001322182.1:c.474G>A	NP_001309111.1:p.Trp158Ter
NM_001322183.1:c.474G>A	NP_001309112.1:p.Trp158Ter
NM_001322184.1:c.474G>A	NP_001309113.1:p.Trp158Ter
NM_001322185.1:c.474G>A	NP_001309114.1:p.Trp158Ter
NM_001322186.1:c.1218G>A	NP_001309115.1:p.Trp406Ter
NM_001922.4:c.1407G>A	NP_001913.2:p.Trp469Ter
XM_011521049.2:c.1218G>A	XP_011519351.1:p.Trp406Ter
XM_017020401.2:c.1536G>A	XP_016875890.1:p.Trp512Ter
XM_024449328.1:c.474G>A	XP_024305096.1:p.Trp158Ter
XR_002957452.1:n.1717G>A
NM_001922.5:c.1407G>A MANE Select	NP_001913.2:p.Trp469Ter
NM_001322182.2:c.474G>A	NP_001309111.1:p.Trp158Ter
NM_001322183.2:c.474G>A	NP_001309112.1:p.Trp158Ter
NM_001322184.2:c.474G>A	NP_001309113.1:p.Trp158Ter
NM_001322185.2:c.474G>A	NP_001309114.1:p.Trp158Ter
NM_001322186.2:c.1218G>A	NP_001309115.1:p.Trp406Ter
NM_001129889.3:c.1506G>A	NP_001123361.1:p.Trp502Ter