Canonical Allele Identifier: CA119102301

Gene: ANKRD55

Linked Data

• dbSNP Id: rs970397449
• gnomAD v3: 5-56142692-C-T
• gnomAD v4: 5-56142692-C-T
• MyVariant Identifiers: chr5:g.55438519C>T (hg19) ; chr5:g.56142692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56142692C>T , CM000667.2:g.56142692C>T	GRCh38
NC_000005.9:g.55438519C>T , CM000667.1:g.55438519C>T	GRCh37
NC_000005.8:g.55474276C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341048.9:c.612+1109G>A MANE Select	ENSP00000342295.4:n.612+1109G>A
ENST00000341048.8:c.612+1109G>A	ENSP00000342295.4:n.612+1109G>A
ENST00000504958.6:c.484-15586G>A	ENSP00000424230.1:n.484-15586G>A
ENST00000505970.2:n.382+1109G>A
NM_024669.2:c.612+1109G>A	NP_078945.2:n.612+1109G>A
XM_006714691.2:c.126+1109G>A	XP_006714754.1:n.126+1109G>A
XM_011543646.1:c.-65+1109G>A	XP_011541948.1:n.-65+1109G>A
XM_017009852.1:c.612+1109G>A	XP_016865341.1:n.612+1109G>A
XM_017009853.1:c.612+1109G>A	XP_016865342.1:n.612+1109G>A
XM_017009854.1:c.126+1109G>A	XP_016865343.1:n.126+1109G>A
NM_024669.3:c.612+1109G>A MANE Select	NP_078945.2:n.612+1109G>A