Canonical Allele Identifier: CA2660186200
Gene: SNRNP200 HGNC NCBI

Linked Data

gnomAD v4: 2-96293166-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96293166T>C , CM000664.2:g.96293166T>C GRCh38
NC_000002.11:g.96958904T>C , CM000664.1:g.96958904T>C GRCh37
NC_000002.10:g.96322631T>C NCBI36
NG_016973.1:g.17394A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2037-71A>G MANE Select ENSP00000317123.5:n.2037-71A>G
ENST00000652267.1:c.2037-71A>G ENSP00000498933.1:n.2037-71A>G
ENST00000323853.9:c.2037-71A>G ENSP00000317123.5:n.2037-71A>G
NM_014014.4:c.2037-71A>G NP_054733.2:n.2037-71A>G
NM_014014.5:c.2037-71A>G MANE Select NP_054733.2:n.2037-71A>G