Canonical Allele Identifier: CA479252471

Gene: MUC19

Linked Data

• dbSNP Id: rs1291778600
• gnomAD v3: 12-40429658-G-T
• gnomAD v4: 12-40429658-G-T
• MyVariant Identifiers: chr12:g.40823460G>T (hg19) ; chr12:g.40429658G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40429658G>T , CM000674.2:g.40429658G>T	GRCh38
NC_000012.11:g.40823460G>T , CM000674.1:g.40823460G>T	GRCh37
NC_000012.10:g.39109727G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454784.10:c.2513G>T	ENSP00000508949.1:p.Cys838Phe
ENST00000454784.9:n.2559G>T
NM_173600.2:c.2513G>T	NP_775871.2:p.Cys838Phe
XR_944866.1:n.75-9347C>A
XR_944867.1:n.75-9347C>A
XR_944868.1:n.75-9347C>A
XR_944869.1:n.75-9347C>A
XR_944870.1:n.75-9347C>A
XR_944871.1:n.75-9347C>A
XR_944872.1:n.81-9347C>A
XR_944873.1:n.75-9347C>A
XR_001749087.1:n.75-9347C>A
XR_001749088.1:n.75-9347C>A
XR_944868.2:n.75-9347C>A
XR_944869.2:n.75-9347C>A