Canonical Allele Identifier: CA445979281

Gene: MCC

Linked Data

• dbSNP Id: rs772284614
• gnomAD v2: 5-112399716-C-T
• gnomAD v3: 5-113064019-C-T
• gnomAD v4: 5-113064019-C-T
• MyVariant Identifiers: chr5:g.112399716C>T (hg19) ; chr5:g.113064019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064019C>T , CM000667.2:g.113064019C>T	GRCh38
NC_000005.9:g.112399716C>T , CM000667.1:g.112399716C>T	GRCh37
NC_000005.8:g.112427615C>T	NCBI36
NG_012265.1:g.429812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1608G>A	ENSP00000305617.4:p.Gln536=
ENST00000408903.7:c.2178G>A MANE Select	ENSP00000386227.3:p.Gln726=
ENST00000302475.8:c.1608G>A	ENSP00000305617.4:p.Gln536=
ENST00000408903.6:c.2178G>A	ENSP00000386227.3:p.Gln726=
ENST00000514701.5:c.1608G>A	ENSP00000485220.1:p.Gln536=
ENST00000515367.6:c.1419G>A	ENSP00000421615.2:p.Gln473=
ENST00000624689.3:c.22G>A
NM_001085377.1:c.2178G>A	NP_001078846.1:p.Gln726=
NM_002387.2:c.1608G>A	NP_002378.1:p.Gln536=
XM_005271991.2:c.1608G>A	XP_005272048.1:p.Gln536=
XM_005271991.3:c.1608G>A	XP_005272048.1:p.Gln536=
XM_017009473.1:c.2178G>A	XP_016864962.1:p.Gln726=
XM_017009474.1:c.1578G>A	XP_016864963.1:p.Gln526=
XM_024446049.1:c.1419G>A	XP_024301817.1:p.Gln473=
XM_024446050.1:c.1419G>A	XP_024301818.1:p.Gln473=
XM_024446051.1:c.1419G>A	XP_024301819.1:p.Gln473=
XM_024446052.1:c.1419G>A	XP_024301820.1:p.Gln473=
NM_001085377.2:c.2178G>A MANE Select	NP_001078846.2:p.Gln726=
NM_002387.3:c.1608G>A	NP_002378.2:p.Gln536=