Canonical Allele Identifier: CA2679047298
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49459022-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459022A>C , CM000668.2:g.49459022A>C GRCh38
NC_000006.11:g.49426735A>C , CM000668.1:g.49426735A>C GRCh37
NC_000006.10:g.49534694A>C NCBI36
NG_007100.1:g.9118T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.385+60T>G MANE Select ENSP00000274813.3:n.385+60T>G
ENST00000274813.3:c.385+60T>G ENSP00000274813.3:n.385+60T>G
NM_000255.3:c.385+60T>G NP_000246.2:n.385+60T>G
XM_005249143.2:c.385+60T>G XP_005249200.1:n.385+60T>G
XM_005249143.3:c.385+60T>G XP_005249200.1:n.385+60T>G
NM_000255.4:c.385+60T>G MANE Select NP_000246.2:n.385+60T>G
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