Canonical Allele Identifier: CA437092398

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183037270-A-T
• MyVariant Identifiers: chr3:g.182755058A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037270A>T , CM000665.2:g.183037270A>T	GRCh38
NC_000003.11:g.182755058A>T , CM000665.1:g.182755058A>T	GRCh37
NC_000003.10:g.184237752A>T	NCBI36
NG_008100.1:g.67308T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1542T>A MANE Select	ENSP00000265594.4:p.Gly514=
ENST00000265594.8:c.1542T>A	ENSP00000265594.4:p.Gly514=
ENST00000476176.5:c.1401T>A	ENSP00000420433.1:p.Gly467=
ENST00000489909.1:n.86T>A
ENST00000492597.5:c.1215T>A	ENSP00000419898.1:p.Gly405=
ENST00000495767.5:c.*1123T>A	ENSP00000419658.1:n.*1123T>A
ENST00000497830.5:c.*1139T>A	ENSP00000420088.1:n.*1139T>A
ENST00000497959.5:c.1263+1756T>A	ENSP00000420648.1:n.1263+1756T>A
ENST00000539926.5:c.1092T>A	ENSP00000441253.2:p.Gly364=
ENST00000610757.4:c.1092T>A	ENSP00000480435.1:p.Gly364=
ENST00000629669.2:c.1263+1756T>A	ENSP00000486824.1:n.1263+1756T>A
NM_001293273.1:c.1191T>A	NP_001280202.1:p.Gly397=
NM_020166.4:c.1542T>A	NP_064551.3:p.Gly514=
NR_120639.1:n.1456T>A
NR_120640.1:n.2044+1756T>A
XM_006713702.1:c.1215T>A	XP_006713765.1:p.Gly405=
XM_011512992.1:c.1428T>A	XP_011511294.1:p.Gly476=
XM_011512993.1:c.1377+1756T>A	XP_011511295.1:n.1377+1756T>A
XR_241502.2:n.1524+1756T>A
XR_924159.1:n.1689T>A
NM_001363880.1:c.1215T>A	NP_001350809.1:p.Gly405=
XM_011512992.2:c.1428T>A	XP_011511294.1:p.Gly476=
XR_001740207.2:n.1665T>A
XR_001740208.2:n.1665T>A
XR_001740209.2:n.1470+1756T>A
XR_001740210.1:n.1495T>A
XR_002959553.1:n.1665T>A
XR_002959554.1:n.1500+1756T>A
XR_241502.3:n.1470+1756T>A
NM_020166.5:c.1542T>A MANE Select	NP_064551.3:p.Gly514=
NM_001293273.2:c.1191T>A	NP_001280202.1:p.Gly397=
NR_120639.2:n.1365T>A
NR_120640.2:n.2044+1756T>A