Canonical Allele Identifier: CA235401048

Gene: MUC19

Linked Data

• dbSNP Id: rs980139872
• gnomAD v2: 12-40823394-G-A
• gnomAD v4: 12-40429592-G-A
• MyVariant Identifiers: chr12:g.40823394G>A (hg19) ; chr12:g.40429592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40429592G>A , CM000674.2:g.40429592G>A	GRCh38
NC_000012.11:g.40823394G>A , CM000674.1:g.40823394G>A	GRCh37
NC_000012.10:g.39109661G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454784.10:c.2447G>A	ENSP00000508949.1:p.Arg816Lys
ENST00000454784.9:n.2493G>A
NM_173600.2:c.2447G>A	NP_775871.2:p.Arg816Lys
XR_944866.1:n.75-9281C>T
XR_944867.1:n.75-9281C>T
XR_944868.1:n.75-9281C>T
XR_944869.1:n.75-9281C>T
XR_944870.1:n.75-9281C>T
XR_944871.1:n.75-9281C>T
XR_944872.1:n.81-9281C>T
XR_944873.1:n.75-9281C>T
XR_001749087.1:n.75-9281C>T
XR_001749088.1:n.75-9281C>T
XR_944868.2:n.75-9281C>T
XR_944869.2:n.75-9281C>T