Canonical Allele Identifier: CA2718812
Gene: MCCC1 HGNC NCBI

Linked Data

dbSNP Id: rs763006656

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039076C>G , CM000665.2:g.183039076C>G GRCh38
NC_000003.11:g.182756864C>G , CM000665.1:g.182756864C>G GRCh37
NC_000003.10:g.184239558C>G NCBI36
NG_008100.1:g.65502G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1327G>C MANE Select ENSP00000265594.4:p.Asp443His
ENST00000265594.8:c.1327G>C ENSP00000265594.4:p.Asp443His
ENST00000476176.5:c.1186G>C ENSP00000420433.1:p.Asp396His
ENST00000492597.5:c.1000G>C ENSP00000419898.1:p.Asp334His
ENST00000495767.5:c.*908G>C ENSP00000419658.1:n.*908G>C
ENST00000497830.5:c.*924G>C ENSP00000420088.1:n.*924G>C
ENST00000497959.5:c.1213G>C ENSP00000420648.1:p.Asp405His
ENST00000539926.5:c.877G>C ENSP00000441253.2:p.Asp293His
ENST00000610757.4:c.877G>C ENSP00000480435.1:p.Asp293His
ENST00000629669.2:c.1213G>C ENSP00000486824.1:p.Asp405His
NM_001293273.1:c.976G>C NP_001280202.1:p.Asp326His
NM_020166.4:c.1327G>C NP_064551.3:p.Asp443His
NR_120639.1:n.1241G>C
NR_120640.1:n.1994G>C
XM_006713702.1:c.1000G>C XP_006713765.1:p.Asp334His
XM_011512992.1:c.1213G>C XP_011511294.1:p.Asp405His
XM_011512993.1:c.1327G>C XP_011511295.1:p.Asp443His
XR_241502.2:n.1474G>C
XR_924159.1:n.1474G>C
NM_001363880.1:c.1000G>C NP_001350809.1:p.Asp334His
XM_011512992.2:c.1213G>C XP_011511294.1:p.Asp405His
XR_001740207.2:n.1450G>C
XR_001740208.2:n.1450G>C
XR_001740209.2:n.1420G>C
XR_001740210.1:n.1280G>C
XR_002959553.1:n.1450G>C
XR_002959554.1:n.1450G>C
XR_241502.3:n.1420G>C
NM_020166.5:c.1327G>C MANE Select NP_064551.3:p.Asp443His
NM_001293273.2:c.976G>C NP_001280202.1:p.Asp326His
NR_120639.2:n.1150G>C
NR_120640.2:n.1994G>C