Canonical Allele Identifier: CA946837844
Gene: MUC19 HGNC NCBI

Linked Data

dbSNP Id: rs1380315778
gnomAD v3: 12-40429348-G-A
gnomAD v4: 12-40429348-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40429348G>A , CM000674.2:g.40429348G>A GRCh38
NC_000012.11:g.40823150G>A , CM000674.1:g.40823150G>A GRCh37
NC_000012.10:g.39109417G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000454784.10:c.2397-194G>A ENSP00000508949.1:n.2397-194G>A
ENST00000454784.9:n.2443-194G>A
NM_173600.2:c.2397-194G>A NP_775871.2:n.2397-194G>A
XR_944866.1:n.75-9037C>T
XR_944867.1:n.75-9037C>T
XR_944868.1:n.75-9037C>T
XR_944869.1:n.75-9037C>T
XR_944870.1:n.75-9037C>T
XR_944871.1:n.75-9037C>T
XR_944872.1:n.81-9037C>T
XR_944873.1:n.75-9037C>T
XR_001749087.1:n.75-9037C>T
XR_001749088.1:n.75-9037C>T
XR_944868.2:n.75-9037C>T
XR_944869.2:n.75-9037C>T
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