Canonical Allele Identifier: CA124994800

Gene: MCC

Linked Data

• dbSNP Id: rs1050895533
• gnomAD v4: 5-113064132-G-A
• MyVariant Identifiers: chr5:g.112399829G>A (hg19) ; chr5:g.113064132G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064132G>A , CM000667.2:g.113064132G>A	GRCh38
NC_000005.9:g.112399829G>A , CM000667.1:g.112399829G>A	GRCh37
NC_000005.8:g.112427728G>A	NCBI36
NG_012265.1:g.429699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.1495C>T	ENSP00000305617.4:p.Leu499Phe
ENST00000408903.7:c.2065C>T MANE Select	ENSP00000386227.3:p.Leu689Phe
ENST00000302475.8:c.1495C>T	ENSP00000305617.4:p.Leu499Phe
ENST00000408903.6:c.2065C>T	ENSP00000386227.3:p.Leu689Phe
ENST00000514701.5:c.1495C>T	ENSP00000485220.1:p.Leu499Phe
ENST00000515367.6:c.1306C>T	ENSP00000421615.2:p.Leu436Phe
NM_001085377.1:c.2065C>T	NP_001078846.1:p.Leu689Phe
NM_002387.2:c.1495C>T	NP_002378.1:p.Leu499Phe
XM_005271991.2:c.1495C>T	XP_005272048.1:p.Leu499Phe
XM_005271991.3:c.1495C>T	XP_005272048.1:p.Leu499Phe
XM_017009473.1:c.2065C>T	XP_016864962.1:p.Leu689Phe
XM_017009474.1:c.1465C>T	XP_016864963.1:p.Leu489Phe
XM_024446049.1:c.1306C>T	XP_024301817.1:p.Leu436Phe
XM_024446050.1:c.1306C>T	XP_024301818.1:p.Leu436Phe
XM_024446051.1:c.1306C>T	XP_024301819.1:p.Leu436Phe
XM_024446052.1:c.1306C>T	XP_024301820.1:p.Leu436Phe
NM_001085377.2:c.2065C>T MANE Select	NP_001078846.2:p.Leu689Phe
NM_002387.3:c.1495C>T	NP_002378.2:p.Leu499Phe