Canonical Allele Identifier: CA364404789

Gene: MMUT

Linked Data

• COSMIC: COSM3745280
• MyVariant Identifiers: chr6:g.49425750A>C (hg19) ; chr6:g.49458037A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49458037A>C , CM000668.2:g.49458037A>C	GRCh38
NC_000006.11:g.49425750A>C , CM000668.1:g.49425750A>C	GRCh37
NC_000006.10:g.49533709A>C	NCBI36
NG_007100.1:g.10103T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.407T>G MANE Select	ENSP00000274813.3:p.Val136Gly
ENST00000274813.3:c.407T>G	ENSP00000274813.3:p.Val136Gly
NM_000255.3:c.407T>G	NP_000246.2:p.Val136Gly
XM_005249143.2:c.407T>G	XP_005249200.1:p.Val136Gly
XM_005249143.3:c.407T>G	XP_005249200.1:p.Val136Gly
NM_000255.4:c.407T>G MANE Select	NP_000246.2:p.Val136Gly