Canonical Allele Identifier: CA138795481

Gene: MMUT

Linked Data

• dbSNP Id: rs767754803
• gnomAD v4: 6-49444514-G-A
• MyVariant Identifiers: chr6:g.49412227G>A (hg19) ; chr6:g.49444514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49444514G>A , CM000668.2:g.49444514G>A	GRCh38
NC_000006.11:g.49412227G>A , CM000668.1:g.49412227G>A	GRCh37
NC_000006.10:g.49520186G>A	NCBI36
NG_007100.1:g.23626C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274813.4:c.1676+125C>T MANE Select	ENSP00000274813.3:n.1676+125C>T
ENST00000274813.3:c.1676+125C>T	ENSP00000274813.3:n.1676+125C>T
NM_000255.3:c.1676+125C>T	NP_000246.2:n.1676+125C>T
XM_005249143.2:c.1676+125C>T	XP_005249200.1:n.1676+125C>T
XM_005249143.3:c.1676+125C>T	XP_005249200.1:n.1676+125C>T
NM_000255.4:c.1676+125C>T MANE Select	NP_000246.2:n.1676+125C>T