Canonical Allele Identifier: CA347678944
Gene: SNRNP200 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96292980T>G , CM000664.2:g.96292980T>G GRCh38
NC_000002.11:g.96958718T>G , CM000664.1:g.96958718T>G GRCh37
NC_000002.10:g.96322445T>G NCBI36
NG_016973.1:g.17580A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2152A>C MANE Select ENSP00000317123.5:p.Lys718Gln
ENST00000652267.1:c.2152A>C ENSP00000498933.1:p.Lys718Gln
ENST00000323853.9:c.2152A>C ENSP00000317123.5:p.Lys718Gln
NM_014014.4:c.2152A>C NP_054733.2:p.Lys718Gln
NM_014014.5:c.2152A>C MANE Select NP_054733.2:p.Lys718Gln