Canonical Allele Identifier: CA3846900

Gene: MMUT

Linked Data

• ClinVar Variation Id: 357260
• ClinVar RCV Id: RCV001276750 ; RCV000838307 ; RCV001083197
• dbSNP Id: rs199555550
• ExAC: 6:49416648 G / A
• gnomAD v2: 6-49416648-G-A
• gnomAD v3: 6-49448935-G-A
• gnomAD v4: 6-49448935-G-A
• COSMIC: COSM4004064
• MyVariant Identifiers: chr6:g.49416648G>A (hg19) ; chr6:g.49448935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49448935G>A , CM000668.2:g.49448935G>A	GRCh38
NC_000006.11:g.49416648G>A , CM000668.1:g.49416648G>A	GRCh37
NC_000006.10:g.49524607G>A	NCBI36
NG_007100.1:g.19205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1333-8C>T MANE Select	ENSP00000274813.3:n.1333-8C>T
ENST00000274813.3:c.1333-8C>T	ENSP00000274813.3:n.1333-8C>T
NM_000255.3:c.1333-8C>T	NP_000246.2:n.1333-8C>T
XM_005249143.2:c.1333-8C>T	XP_005249200.1:n.1333-8C>T
XM_005249143.3:c.1333-8C>T	XP_005249200.1:n.1333-8C>T
NM_000255.4:c.1333-8C>T MANE Select	NP_000246.2:n.1333-8C>T