Canonical Allele Identifier: CA2660186191
Gene: SNRNP200 HGNC NCBI

Linked Data

gnomAD v4: 2-96293124-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96293124G>A , CM000664.2:g.96293124G>A GRCh38
NC_000002.11:g.96958862G>A , CM000664.1:g.96958862G>A GRCh37
NC_000002.10:g.96322589G>A NCBI36
NG_016973.1:g.17436C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2037-29C>T MANE Select ENSP00000317123.5:n.2037-29C>T
ENST00000652267.1:c.2037-29C>T ENSP00000498933.1:n.2037-29C>T
ENST00000323853.9:c.2037-29C>T ENSP00000317123.5:n.2037-29C>T
NM_014014.4:c.2037-29C>T NP_054733.2:n.2037-29C>T
NM_014014.5:c.2037-29C>T MANE Select NP_054733.2:n.2037-29C>T