Canonical Allele Identifier: CA3370045

Gene: MCC

Linked Data

• dbSNP Id: rs370600826
• ExAC: 5:112399842 G / C
• gnomAD v2: 5-112399842-G-C
• gnomAD v4: 5-113064145-G-C
• MyVariant Identifiers: chr5:g.112399842G>C (hg19) ; chr5:g.113064145G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064145G>C , CM000667.2:g.113064145G>C	GRCh38
NC_000005.9:g.112399842G>C , CM000667.1:g.112399842G>C	GRCh37
NC_000005.8:g.112427741G>C	NCBI36
NG_012265.1:g.429686C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1482C>G	ENSP00000305617.4:p.Asn494Lys
ENST00000408903.7:c.2052C>G MANE Select	ENSP00000386227.3:p.Asn684Lys
ENST00000302475.8:c.1482C>G	ENSP00000305617.4:p.Asn494Lys
ENST00000408903.6:c.2052C>G	ENSP00000386227.3:p.Asn684Lys
ENST00000514701.5:c.1482C>G	ENSP00000485220.1:p.Asn494Lys
ENST00000515367.6:c.1293C>G	ENSP00000421615.2:p.Asn431Lys
NM_001085377.1:c.2052C>G	NP_001078846.1:p.Asn684Lys
NM_002387.2:c.1482C>G	NP_002378.1:p.Asn494Lys
XM_005271991.2:c.1482C>G	XP_005272048.1:p.Asn494Lys
XM_005271991.3:c.1482C>G	XP_005272048.1:p.Asn494Lys
XM_017009473.1:c.2052C>G	XP_016864962.1:p.Asn684Lys
XM_017009474.1:c.1452C>G	XP_016864963.1:p.Asn484Lys
XM_024446049.1:c.1293C>G	XP_024301817.1:p.Asn431Lys
XM_024446050.1:c.1293C>G	XP_024301818.1:p.Asn431Lys
XM_024446051.1:c.1293C>G	XP_024301819.1:p.Asn431Lys
XM_024446052.1:c.1293C>G	XP_024301820.1:p.Asn431Lys
NM_001085377.2:c.2052C>G MANE Select	NP_001078846.2:p.Asn684Lys
NM_002387.3:c.1482C>G	NP_002378.2:p.Asn494Lys