Canonical Allele Identifier: CA364399144
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1348134520
gnomAD v2: 6-49419409-C-G
gnomAD v3: 6-49451696-C-G
gnomAD v4: 6-49451696-C-G
MyVariant Identifiers: chr6:g.49419409C>G (hg19) chr6:g.49451696C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451696C>G , CM000668.2:g.49451696C>G GRCh38
NC_000006.11:g.49419409C>G , CM000668.1:g.49419409C>G GRCh37
NC_000006.10:g.49527368C>G NCBI36
NG_007100.1:g.16444G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1102G>C MANE Select ENSP00000274813.3:p.Val368Leu
ENST00000274813.3:c.1102G>C ENSP00000274813.3:p.Val368Leu
NM_000255.3:c.1102G>C NP_000246.2:p.Val368Leu
XM_005249143.2:c.1102G>C XP_005249200.1:p.Val368Leu
XM_005249143.3:c.1102G>C XP_005249200.1:p.Val368Leu
NM_000255.4:c.1102G>C MANE Select NP_000246.2:p.Val368Leu
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