Canonical Allele Identifier: CA364399006
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49451644-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451644A>G , CM000668.2:g.49451644A>G GRCh38
NC_000006.11:g.49419357A>G , CM000668.1:g.49419357A>G GRCh37
NC_000006.10:g.49527316A>G NCBI36
NG_007100.1:g.16496T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1154T>C MANE Select ENSP00000274813.3:p.Leu385Ser
ENST00000274813.3:c.1154T>C ENSP00000274813.3:p.Leu385Ser
NM_000255.3:c.1154T>C NP_000246.2:p.Leu385Ser
XM_005249143.2:c.1154T>C XP_005249200.1:p.Leu385Ser
XM_005249143.3:c.1154T>C XP_005249200.1:p.Leu385Ser
NM_000255.4:c.1154T>C MANE Select NP_000246.2:p.Leu385Ser