Canonical Allele Identifier: CA437092798
Gene: MCCC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.182756868T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039080T>A , CM000665.2:g.183039080T>A GRCh38
NC_000003.11:g.182756868T>A , CM000665.1:g.182756868T>A GRCh37
NC_000003.10:g.184239562T>A NCBI36
NG_008100.1:g.65498A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1323A>T MANE Select ENSP00000265594.4:p.Ala441=
ENST00000265594.8:c.1323A>T ENSP00000265594.4:p.Ala441=
ENST00000476176.5:c.1182A>T ENSP00000420433.1:p.Ala394=
ENST00000492597.5:c.996A>T ENSP00000419898.1:p.Ala332=
ENST00000495767.5:c.*904A>T ENSP00000419658.1:n.*904A>T
ENST00000497830.5:c.*920A>T ENSP00000420088.1:n.*920A>T
ENST00000497959.5:c.1209A>T ENSP00000420648.1:p.Ala403=
ENST00000539926.5:c.873A>T ENSP00000441253.2:p.Ala291=
ENST00000610757.4:c.873A>T ENSP00000480435.1:p.Ala291=
ENST00000629669.2:c.1209A>T ENSP00000486824.1:p.Ala403=
NM_001293273.1:c.972A>T NP_001280202.1:p.Ala324=
NM_020166.4:c.1323A>T NP_064551.3:p.Ala441=
NR_120639.1:n.1237A>T
NR_120640.1:n.1990A>T
XM_006713702.1:c.996A>T XP_006713765.1:p.Ala332=
XM_011512992.1:c.1209A>T XP_011511294.1:p.Ala403=
XM_011512993.1:c.1323A>T XP_011511295.1:p.Ala441=
XR_241502.2:n.1470A>T
XR_924159.1:n.1470A>T
NM_001363880.1:c.996A>T NP_001350809.1:p.Ala332=
XM_011512992.2:c.1209A>T XP_011511294.1:p.Ala403=
XR_001740207.2:n.1446A>T
XR_001740208.2:n.1446A>T
XR_001740209.2:n.1416A>T
XR_001740210.1:n.1276A>T
XR_002959553.1:n.1446A>T
XR_002959554.1:n.1446A>T
XR_241502.3:n.1416A>T
NM_020166.5:c.1323A>T MANE Select NP_064551.3:p.Ala441=
NM_001293273.2:c.972A>T NP_001280202.1:p.Ala324=
NR_120639.2:n.1146A>T
NR_120640.2:n.1990A>T