Canonical Allele Identifier: CA364405269
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1414898553
gnomAD v2: 6-49426948-T-C
gnomAD v4: 6-49459235-T-C

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