Canonical Allele Identifier: CA437092773
Gene: MCCC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.182756844T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039056T>A , CM000665.2:g.183039056T>A GRCh38
NC_000003.11:g.182756844T>A , CM000665.1:g.182756844T>A GRCh37
NC_000003.10:g.184239538T>A NCBI36
NG_008100.1:g.65522A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1347A>T MANE Select ENSP00000265594.4:p.Thr449=
ENST00000265594.8:c.1347A>T ENSP00000265594.4:p.Thr449=
ENST00000476176.5:c.1206A>T ENSP00000420433.1:p.Thr402=
ENST00000492597.5:c.1020A>T ENSP00000419898.1:p.Thr340=
ENST00000495767.5:c.*928A>T ENSP00000419658.1:n.*928A>T
ENST00000497830.5:c.*944A>T ENSP00000420088.1:n.*944A>T
ENST00000497959.5:c.1233A>T ENSP00000420648.1:p.Thr411=
ENST00000539926.5:c.897A>T ENSP00000441253.2:p.Thr299=
ENST00000610757.4:c.897A>T ENSP00000480435.1:p.Thr299=
ENST00000629669.2:c.1233A>T ENSP00000486824.1:p.Thr411=
NM_001293273.1:c.996A>T NP_001280202.1:p.Thr332=
NM_020166.4:c.1347A>T NP_064551.3:p.Thr449=
NR_120639.1:n.1261A>T
NR_120640.1:n.2014A>T
XM_006713702.1:c.1020A>T XP_006713765.1:p.Thr340=
XM_011512992.1:c.1233A>T XP_011511294.1:p.Thr411=
XM_011512993.1:c.1347A>T XP_011511295.1:p.Thr449=
XR_241502.2:n.1494A>T
XR_924159.1:n.1494A>T
NM_001363880.1:c.1020A>T NP_001350809.1:p.Thr340=
XM_011512992.2:c.1233A>T XP_011511294.1:p.Thr411=
XR_001740207.2:n.1470A>T
XR_001740208.2:n.1470A>T
XR_001740209.2:n.1440A>T
XR_001740210.1:n.1300A>T
XR_002959553.1:n.1470A>T
XR_002959554.1:n.1470A>T
XR_241502.3:n.1440A>T
NM_020166.5:c.1347A>T MANE Select NP_064551.3:p.Thr449=
NM_001293273.2:c.996A>T NP_001280202.1:p.Thr332=
NR_120639.2:n.1170A>T
NR_120640.2:n.2014A>T