Canonical Allele Identifier: CA1088813498
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1767763315
gnomAD v3: 6-49458982-T-C
gnomAD v4: 6-49458982-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458982T>C , CM000668.2:g.49458982T>C GRCh38
NC_000006.11:g.49426695T>C , CM000668.1:g.49426695T>C GRCh37
NC_000006.10:g.49534654T>C NCBI36
NG_007100.1:g.9158A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.385+100A>G MANE Select ENSP00000274813.3:n.385+100A>G
ENST00000274813.3:c.385+100A>G ENSP00000274813.3:n.385+100A>G
NM_000255.3:c.385+100A>G NP_000246.2:n.385+100A>G
XM_005249143.2:c.385+100A>G XP_005249200.1:n.385+100A>G
XM_005249143.3:c.385+100A>G XP_005249200.1:n.385+100A>G
NM_000255.4:c.385+100A>G MANE Select NP_000246.2:n.385+100A>G
Search 100 bp 5'
Search 100 bp 3'