Canonical Allele Identifier: CA138795800

Gene: MMUT

Linked Data

• dbSNP Id: rs559373843
• gnomAD v2: 6-49415645-A-T
• gnomAD v3: 6-49447932-A-T
• gnomAD v4: 6-49447932-A-T
• MyVariant Identifiers: chr6:g.49415645A>T (hg19) ; chr6:g.49447932A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49447932A>T , CM000668.2:g.49447932A>T	GRCh38
NC_000006.11:g.49415645A>T , CM000668.1:g.49415645A>T	GRCh37
NC_000006.10:g.49523604A>T	NCBI36
NG_007100.1:g.20208T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1445-147T>A MANE Select	ENSP00000274813.3:n.1445-147T>A
ENST00000274813.3:c.1445-147T>A	ENSP00000274813.3:n.1445-147T>A
NM_000255.3:c.1445-147T>A	NP_000246.2:n.1445-147T>A
XM_005249143.2:c.1445-147T>A	XP_005249200.1:n.1445-147T>A
XM_005249143.3:c.1445-147T>A	XP_005249200.1:n.1445-147T>A
NM_000255.4:c.1445-147T>A MANE Select	NP_000246.2:n.1445-147T>A