Canonical Allele Identifier: CA3370027

Gene: MCC

Linked Data

• dbSNP Id: rs778926571
• ExAC: 5:112399795 T / C
• gnomAD v2: 5-112399795-T-C
• gnomAD v4: 5-113064098-T-C
• MyVariant Identifiers: chr5:g.112399795T>C (hg19) ; chr5:g.113064098T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064098T>C , CM000667.2:g.113064098T>C	GRCh38
NC_000005.9:g.112399795T>C , CM000667.1:g.112399795T>C	GRCh37
NC_000005.8:g.112427694T>C	NCBI36
NG_012265.1:g.429733A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1529A>G	ENSP00000305617.4:p.Glu510Gly
ENST00000408903.7:c.2099A>G MANE Select	ENSP00000386227.3:p.Glu700Gly
ENST00000302475.8:c.1529A>G	ENSP00000305617.4:p.Glu510Gly
ENST00000408903.6:c.2099A>G	ENSP00000386227.3:p.Glu700Gly
ENST00000514701.5:c.1529A>G	ENSP00000485220.1:p.Glu510Gly
ENST00000515367.6:c.1340A>G	ENSP00000421615.2:p.Glu447Gly
NM_001085377.1:c.2099A>G	NP_001078846.1:p.Glu700Gly
NM_002387.2:c.1529A>G	NP_002378.1:p.Glu510Gly
XM_005271991.2:c.1529A>G	XP_005272048.1:p.Glu510Gly
XM_005271991.3:c.1529A>G	XP_005272048.1:p.Glu510Gly
XM_017009473.1:c.2099A>G	XP_016864962.1:p.Glu700Gly
XM_017009474.1:c.1499A>G	XP_016864963.1:p.Glu500Gly
XM_024446049.1:c.1340A>G	XP_024301817.1:p.Glu447Gly
XM_024446050.1:c.1340A>G	XP_024301818.1:p.Glu447Gly
XM_024446051.1:c.1340A>G	XP_024301819.1:p.Glu447Gly
XM_024446052.1:c.1340A>G	XP_024301820.1:p.Glu447Gly
NM_001085377.2:c.2099A>G MANE Select	NP_001078846.2:p.Glu700Gly
NM_002387.3:c.1529A>G	NP_002378.2:p.Glu510Gly