Canonical Allele Identifier: CA364395226

Gene: MMUT

Linked Data

• ClinVar Variation Id: 557096
• ClinVar RCV Id: RCV000673187 ; RCV003558522
• dbSNP Id: rs121918254
• gnomAD v3: 6-49440295-C-G
• gnomAD v4: 6-49440295-C-G
• MyVariant Identifiers: chr6:g.49408008C>G (hg19) ; chr6:g.49440295C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49440295C>G , CM000668.2:g.49440295C>G	GRCh38
NC_000006.11:g.49408008C>G , CM000668.1:g.49408008C>G	GRCh37
NC_000006.10:g.49515967C>G	NCBI36
NG_007100.1:g.27845G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1867G>C MANE Select	ENSP00000274813.3:p.Gly623Arg
ENST00000274813.3:c.1867G>C	ENSP00000274813.3:p.Gly623Arg
NM_000255.3:c.1867G>C	NP_000246.2:p.Gly623Arg
XM_005249143.2:c.1867G>C	XP_005249200.1:p.Gly623Arg
XM_005249143.3:c.1867G>C	XP_005249200.1:p.Gly623Arg
NM_000255.4:c.1867G>C MANE Select	NP_000246.2:p.Gly623Arg