Canonical Allele Identifier: CA138795480
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1042914135
gnomAD v4: 6-49444513-T-C
MyVariant Identifiers: chr6:g.49412226T>C (hg19) chr6:g.49444513T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49444513T>C , CM000668.2:g.49444513T>C GRCh38
NC_000006.11:g.49412226T>C , CM000668.1:g.49412226T>C GRCh37
NC_000006.10:g.49520185T>C NCBI36
NG_007100.1:g.23627A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1676+126A>G MANE Select ENSP00000274813.3:n.1676+126A>G
ENST00000274813.3:c.1676+126A>G ENSP00000274813.3:n.1676+126A>G
NM_000255.3:c.1676+126A>G NP_000246.2:n.1676+126A>G
XM_005249143.2:c.1676+126A>G XP_005249200.1:n.1676+126A>G
XM_005249143.3:c.1676+126A>G XP_005249200.1:n.1676+126A>G
NM_000255.4:c.1676+126A>G MANE Select NP_000246.2:n.1676+126A>G
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