Canonical Allele Identifier: CA235400848
Gene: MUC19 HGNC NCBI

Linked Data

dbSNP Id: rs115587539
gnomAD v2: 12-40823204-C-T
gnomAD v3: 12-40429402-C-T
gnomAD v4: 12-40429402-C-T
MyVariant Identifiers: chr12:g.40823204C>T (hg19) chr12:g.40429402C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40429402C>T , CM000674.2:g.40429402C>T GRCh38
NC_000012.11:g.40823204C>T , CM000674.1:g.40823204C>T GRCh37
NC_000012.10:g.39109471C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000454784.10:c.2397-140C>T ENSP00000508949.1:n.2397-140C>T
ENST00000454784.9:n.2443-140C>T
NM_173600.2:c.2397-140C>T NP_775871.2:n.2397-140C>T
XR_944866.1:n.75-9091G>A
XR_944867.1:n.75-9091G>A
XR_944868.1:n.75-9091G>A
XR_944869.1:n.75-9091G>A
XR_944870.1:n.75-9091G>A
XR_944871.1:n.75-9091G>A
XR_944872.1:n.81-9091G>A
XR_944873.1:n.75-9091G>A
XR_001749087.1:n.75-9091G>A
XR_001749088.1:n.75-9091G>A
XR_944868.2:n.75-9091G>A
XR_944869.2:n.75-9091G>A
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