Canonical Allele Identifier: CA364404848

Gene: MMUT

Linked Data

• dbSNP Id: rs1421077210
• gnomAD v2: 6-49426794-C-G
• gnomAD v3: 6-49459081-C-G
• gnomAD v4: 6-49459081-C-G
• MyVariant Identifiers: chr6:g.49426794C>G (hg19) ; chr6:g.49459081C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459081C>G , CM000668.2:g.49459081C>G	GRCh38
NC_000006.11:g.49426794C>G , CM000668.1:g.49426794C>G	GRCh37
NC_000006.10:g.49534753C>G	NCBI36
NG_007100.1:g.9059G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.385+1G>C MANE Select	ENSP00000274813.3:n.385+1G>C
ENST00000274813.3:c.385+1G>C	ENSP00000274813.3:n.385+1G>C
NM_000255.3:c.385+1G>C	NP_000246.2:n.385+1G>C
XM_005249143.2:c.385+1G>C	XP_005249200.1:n.385+1G>C
XM_005249143.3:c.385+1G>C	XP_005249200.1:n.385+1G>C
NM_000255.4:c.385+1G>C MANE Select	NP_000246.2:n.385+1G>C