Canonical Allele Identifier: CA364398979
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49451632-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451632G>C , CM000668.2:g.49451632G>C GRCh38
NC_000006.11:g.49419345G>C , CM000668.1:g.49419345G>C GRCh37
NC_000006.10:g.49527304G>C NCBI36
NG_007100.1:g.16508C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1166C>G MANE Select ENSP00000274813.3:p.Ser389Cys
ENST00000274813.3:c.1166C>G ENSP00000274813.3:p.Ser389Cys
NM_000255.3:c.1166C>G NP_000246.2:p.Ser389Cys
XM_005249143.2:c.1166C>G XP_005249200.1:p.Ser389Cys
XM_005249143.3:c.1166C>G XP_005249200.1:p.Ser389Cys
NM_000255.4:c.1166C>G MANE Select NP_000246.2:p.Ser389Cys