Canonical Allele Identifier: CA360626189

Gene: MCC

Linked Data

• gnomAD v4: 5-113064073-C-T
• MyVariant Identifiers: chr5:g.112399770C>T (hg19) ; chr5:g.113064073C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064073C>T , CM000667.2:g.113064073C>T	GRCh38
NC_000005.9:g.112399770C>T , CM000667.1:g.112399770C>T	GRCh37
NC_000005.8:g.112427669C>T	NCBI36
NG_012265.1:g.429758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1554G>A	ENSP00000305617.4:p.Met518Ile
ENST00000408903.7:c.2124G>A MANE Select	ENSP00000386227.3:p.Met708Ile
ENST00000302475.8:c.1554G>A	ENSP00000305617.4:p.Met518Ile
ENST00000408903.6:c.2124G>A	ENSP00000386227.3:p.Met708Ile
ENST00000514701.5:c.1554G>A	ENSP00000485220.1:p.Met518Ile
ENST00000515367.6:c.1365G>A	ENSP00000421615.2:p.Met455Ile
NM_001085377.1:c.2124G>A	NP_001078846.1:p.Met708Ile
NM_002387.2:c.1554G>A	NP_002378.1:p.Met518Ile
XM_005271991.2:c.1554G>A	XP_005272048.1:p.Met518Ile
XM_005271991.3:c.1554G>A	XP_005272048.1:p.Met518Ile
XM_017009473.1:c.2124G>A	XP_016864962.1:p.Met708Ile
XM_017009474.1:c.1524G>A	XP_016864963.1:p.Met508Ile
XM_024446049.1:c.1365G>A	XP_024301817.1:p.Met455Ile
XM_024446050.1:c.1365G>A	XP_024301818.1:p.Met455Ile
XM_024446051.1:c.1365G>A	XP_024301819.1:p.Met455Ile
XM_024446052.1:c.1365G>A	XP_024301820.1:p.Met455Ile
NM_001085377.2:c.2124G>A MANE Select	NP_001078846.2:p.Met708Ile
NM_002387.3:c.1554G>A	NP_002378.2:p.Met518Ile