Canonical Allele Identifier: CA364405269

Gene: MMUT

Linked Data

• dbSNP Id: rs1414898553
• gnomAD v2: 6-49426948-T-C
• gnomAD v4: 6-49459235-T-C
• MyVariant Identifiers: chr6:g.49426948T>C (hg19) ; chr6:g.49459235T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459235T>C , CM000668.2:g.49459235T>C	GRCh38
NC_000006.11:g.49426948T>C , CM000668.1:g.49426948T>C	GRCh37
NC_000006.10:g.49534907T>C	NCBI36
NG_007100.1:g.8905A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.232A>G MANE Select	ENSP00000274813.3:p.Thr78Ala
ENST00000274813.3:c.232A>G	ENSP00000274813.3:p.Thr78Ala
NM_000255.3:c.232A>G	NP_000246.2:p.Thr78Ala
XM_005249143.2:c.232A>G	XP_005249200.1:p.Thr78Ala
XM_005249143.3:c.232A>G	XP_005249200.1:p.Thr78Ala
NM_000255.4:c.232A>G MANE Select	NP_000246.2:p.Thr78Ala