Canonical Allele Identifier: CA802100043

Gene: MCC

Linked Data

• dbSNP Id: rs1392510899
• gnomAD v3: 5-113387899-C-A
• gnomAD v4: 5-113387899-C-A
• MyVariant Identifiers: chr5:g.112723596C>A (hg19) ; chr5:g.113387899C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113387899C>A , CM000667.2:g.113387899C>A	GRCh38
NC_000005.9:g.112723596C>A , CM000667.1:g.112723596C>A	GRCh37
NC_000005.8:g.112751495C>A	NCBI36
NG_012265.1:g.105932G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000408903.7:c.171-2687G>T MANE Select	ENSP00000386227.3:n.171-2687G>T
ENST00000408903.6:c.171-2687G>T	ENSP00000386227.3:n.171-2687G>T
NM_001085377.1:c.171-2687G>T	NP_001078846.1:n.171-2687G>T
XM_017009473.1:c.171-2687G>T	XP_016864962.1:n.171-2687G>T
NM_001085377.2:c.171-2687G>T MANE Select	NP_001078846.2:n.171-2687G>T