Canonical Allele Identifier: CA3847117

Gene: MMUT

Linked Data

• dbSNP Id: rs768135073
• ExAC: 6:49425787 A / C
• gnomAD v2: 6-49425787-A-C
• gnomAD v4: 6-49458074-A-C
• MyVariant Identifiers: chr6:g.49425787A>C (hg19) ; chr6:g.49458074A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49458074A>C , CM000668.2:g.49458074A>C	GRCh38
NC_000006.11:g.49425787A>C , CM000668.1:g.49425787A>C	GRCh37
NC_000006.10:g.49533746A>C	NCBI36
NG_007100.1:g.10066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.386-16T>G MANE Select	ENSP00000274813.3:n.386-16T>G
ENST00000274813.3:c.386-16T>G	ENSP00000274813.3:n.386-16T>G
NM_000255.3:c.386-16T>G	NP_000246.2:n.386-16T>G
XM_005249143.2:c.386-16T>G	XP_005249200.1:n.386-16T>G
XM_005249143.3:c.386-16T>G	XP_005249200.1:n.386-16T>G
NM_000255.4:c.386-16T>G MANE Select	NP_000246.2:n.386-16T>G