Canonical Allele Identifier: CA3847122

Gene: MMUT

Linked Data

• dbSNP Id: rs758233389
• ExAC: 6:49425821 G / A
• gnomAD v4: 6-49458108-G-A
• MyVariant Identifiers: chr6:g.49425821G>A (hg19) ; chr6:g.49458108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49458108G>A , CM000668.2:g.49458108G>A	GRCh38
NC_000006.11:g.49425821G>A , CM000668.1:g.49425821G>A	GRCh37
NC_000006.10:g.49533780G>A	NCBI36
NG_007100.1:g.10032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.386-50C>T MANE Select	ENSP00000274813.3:n.386-50C>T
ENST00000274813.3:c.386-50C>T	ENSP00000274813.3:n.386-50C>T
NM_000255.3:c.386-50C>T	NP_000246.2:n.386-50C>T
XM_005249143.2:c.386-50C>T	XP_005249200.1:n.386-50C>T
XM_005249143.3:c.386-50C>T	XP_005249200.1:n.386-50C>T
NM_000255.4:c.386-50C>T MANE Select	NP_000246.2:n.386-50C>T