Canonical Allele Identifier: CA2660185959
Gene: SNRNP200 HGNC NCBI

Linked Data

gnomAD v4: 2-96292842-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96292842T>A , CM000664.2:g.96292842T>A GRCh38
NC_000002.11:g.96958580T>A , CM000664.1:g.96958580T>A GRCh37
NC_000002.10:g.96322307T>A NCBI36
NG_016973.1:g.17718A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2160+130A>T MANE Select ENSP00000317123.5:n.2160+130A>T
ENST00000652267.1:c.2160+130A>T ENSP00000498933.1:n.2160+130A>T
ENST00000323853.9:c.2160+130A>T ENSP00000317123.5:n.2160+130A>T
NM_014014.4:c.2160+130A>T NP_054733.2:n.2160+130A>T
NM_014014.5:c.2160+130A>T MANE Select NP_054733.2:n.2160+130A>T