Canonical Allele Identifier: CA355321829

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756834A>G (hg19) ; chr3:g.183039046A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039046A>G , CM000665.2:g.183039046A>G	GRCh38
NC_000003.11:g.182756834A>G , CM000665.1:g.182756834A>G	GRCh37
NC_000003.10:g.184239528A>G	NCBI36
NG_008100.1:g.65532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1357T>C MANE Select	ENSP00000265594.4:p.Tyr453His
ENST00000265594.8:c.1357T>C	ENSP00000265594.4:p.Tyr453His
ENST00000476176.5:c.1216T>C	ENSP00000420433.1:p.Tyr406His
ENST00000492597.5:c.1030T>C	ENSP00000419898.1:p.Tyr344His
ENST00000495767.5:c.*938T>C	ENSP00000419658.1:n.*938T>C
ENST00000497830.5:c.*954T>C	ENSP00000420088.1:n.*954T>C
ENST00000497959.5:c.1243T>C	ENSP00000420648.1:p.Tyr415His
ENST00000539926.5:c.907T>C	ENSP00000441253.2:p.Tyr303His
ENST00000610757.4:c.907T>C	ENSP00000480435.1:p.Tyr303His
ENST00000629669.2:c.1243T>C	ENSP00000486824.1:p.Tyr415His
NM_001293273.1:c.1006T>C	NP_001280202.1:p.Tyr336His
NM_020166.4:c.1357T>C	NP_064551.3:p.Tyr453His
NR_120639.1:n.1271T>C
NR_120640.1:n.2024T>C
XM_006713702.1:c.1030T>C	XP_006713765.1:p.Tyr344His
XM_011512992.1:c.1243T>C	XP_011511294.1:p.Tyr415His
XM_011512993.1:c.1357T>C	XP_011511295.1:p.Tyr453His
XR_241502.2:n.1504T>C
XR_924159.1:n.1504T>C
NM_001363880.1:c.1030T>C	NP_001350809.1:p.Tyr344His
XM_011512992.2:c.1243T>C	XP_011511294.1:p.Tyr415His
XR_001740207.2:n.1480T>C
XR_001740208.2:n.1480T>C
XR_001740209.2:n.1450T>C
XR_001740210.1:n.1310T>C
XR_002959553.1:n.1480T>C
XR_002959554.1:n.1480T>C
XR_241502.3:n.1450T>C
NM_020166.5:c.1357T>C MANE Select	NP_064551.3:p.Tyr453His
NM_001293273.2:c.1006T>C	NP_001280202.1:p.Tyr336His
NR_120639.2:n.1180T>C
NR_120640.2:n.2024T>C