Canonical Allele Identifier: CA235401089

Gene: MUC19

Linked Data

• dbSNP Id: rs764316389
• gnomAD v2: 12-40823430-A-G
• gnomAD v3: 12-40429628-A-G
• gnomAD v4: 12-40429628-A-G
• MyVariant Identifiers: chr12:g.40823430A>G (hg19) ; chr12:g.40429628A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40429628A>G , CM000674.2:g.40429628A>G	GRCh38
NC_000012.11:g.40823430A>G , CM000674.1:g.40823430A>G	GRCh37
NC_000012.10:g.39109697A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454784.10:c.2483A>G	ENSP00000508949.1:p.Asp828Gly
ENST00000454784.9:n.2529A>G
NM_173600.2:c.2483A>G	NP_775871.2:p.Asp828Gly
XR_944866.1:n.75-9317T>C
XR_944867.1:n.75-9317T>C
XR_944868.1:n.75-9317T>C
XR_944869.1:n.75-9317T>C
XR_944870.1:n.75-9317T>C
XR_944871.1:n.75-9317T>C
XR_944872.1:n.81-9317T>C
XR_944873.1:n.75-9317T>C
XR_001749087.1:n.75-9317T>C
XR_001749088.1:n.75-9317T>C
XR_944868.2:n.75-9317T>C
XR_944869.2:n.75-9317T>C