Canonical Allele Identifier: CA1088813506

Gene: MMUT

Linked Data

• dbSNP Id: rs1767764400
• gnomAD v3: 6-49459012-C-A
• gnomAD v4: 6-49459012-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459012C>A , CM000668.2:g.49459012C>A	GRCh38
NC_000006.11:g.49426725C>A , CM000668.1:g.49426725C>A	GRCh37
NC_000006.10:g.49534684C>A	NCBI36
NG_007100.1:g.9128G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.385+70G>T MANE Select	ENSP00000274813.3:n.385+70G>T
ENST00000274813.3:c.385+70G>T	ENSP00000274813.3:n.385+70G>T
NM_000255.3:c.385+70G>T	NP_000246.2:n.385+70G>T
XM_005249143.2:c.385+70G>T	XP_005249200.1:n.385+70G>T
XM_005249143.3:c.385+70G>T	XP_005249200.1:n.385+70G>T
NM_000255.4:c.385+70G>T MANE Select	NP_000246.2:n.385+70G>T