Canonical Allele Identifier: CA566931423

Gene: MMUT

Linked Data

• dbSNP Id: rs483352785
• gnomAD v2: 6-49426765-T-A
• gnomAD v4: 6-49459052-T-A
• MyVariant Identifiers: chr6:g.49426765T>A (hg19) ; chr6:g.49459052T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459052T>A , CM000668.2:g.49459052T>A	GRCh38
NC_000006.11:g.49426765T>A , CM000668.1:g.49426765T>A	GRCh37
NC_000006.10:g.49534724T>A	NCBI36
NG_007100.1:g.9088A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.385+30A>T MANE Select	ENSP00000274813.3:n.385+30A>T
ENST00000274813.3:c.385+30A>T	ENSP00000274813.3:n.385+30A>T
NM_000255.3:c.385+30A>T	NP_000246.2:n.385+30A>T
XM_005249143.2:c.385+30A>T	XP_005249200.1:n.385+30A>T
XM_005249143.3:c.385+30A>T	XP_005249200.1:n.385+30A>T
NM_000255.4:c.385+30A>T MANE Select	NP_000246.2:n.385+30A>T