Canonical Allele Identifier: CA1778775
Gene: SNRNP200 HGNC NCBI

Linked Data

dbSNP Id: rs770241124
gnomAD v2: 2-96958764-C-T
gnomAD v4: 2-96293026-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96293026C>T , CM000664.2:g.96293026C>T GRCh38
NC_000002.11:g.96958764C>T , CM000664.1:g.96958764C>T GRCh37
NC_000002.10:g.96322491C>T NCBI36
NG_016973.1:g.17534G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323853.10:c.2106G>A MANE Select ENSP00000317123.5:p.Gln702=
ENST00000652267.1:c.2106G>A ENSP00000498933.1:p.Gln702=
ENST00000323853.9:c.2106G>A ENSP00000317123.5:p.Gln702=
NM_014014.4:c.2106G>A NP_054733.2:p.Gln702=
NM_014014.5:c.2106G>A MANE Select NP_054733.2:p.Gln702=