Canonical Allele Identifier: CA2957731
Gene: ANKRD17 HGNC NCBI

Linked Data

dbSNP Id: rs368171988
gnomAD v2: 4-73942628-C-T
gnomAD v3: 4-73076911-C-T
gnomAD v4: 4-73076911-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73076911C>T , CM000666.2:g.73076911C>T GRCh38
NC_000004.11:g.73942628C>T , CM000666.1:g.73942628C>T GRCh37
NC_000004.10:g.74161492C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000358602.9:c.7752+29G>A MANE Select ENSP00000351416.4:n.7752+29G>A
ENST00000330838.10:c.6999+29G>A ENSP00000332265.6:n.6999+29G>A
ENST00000358602.8:c.7752+29G>A ENSP00000351416.4:n.7752+29G>A
ENST00000509867.6:c.7413+29G>A ENSP00000427151.2:n.7413+29G>A
ENST00000558247.5:c.7403+29G>A
NM_001286771.1:c.7413+29G>A NP_001273700.1:n.7413+29G>A
NM_032217.3:c.7752+29G>A NP_115593.3:n.7752+29G>A
NM_198889.1:c.6999+29G>A NP_942592.1:n.6999+29G>A
XM_005265667.3:c.7749+29G>A XP_005265724.1:n.7749+29G>A
XM_005265671.3:c.6996+29G>A XP_005265728.1:n.6996+29G>A
NM_001286771.2:c.7413+29G>A NP_001273700.1:n.7413+29G>A
NM_015574.1:c.7749+29G>A NP_056389.1:n.7749+29G>A
NM_032217.4:c.7752+29G>A NP_115593.3:n.7752+29G>A
NM_198889.2:c.6999+29G>A NP_942592.1:n.6999+29G>A
XM_005265671.4:c.6996+29G>A XP_005265728.1:n.6996+29G>A
XM_017008011.1:c.7410+29G>A XP_016863500.1:n.7410+29G>A
XM_017008012.1:c.6660+29G>A XP_016863501.1:n.6660+29G>A
XM_017008013.1:c.6657+29G>A XP_016863502.1:n.6657+29G>A
NM_001286771.3:c.7413+29G>A NP_001273700.1:n.7413+29G>A
NM_015574.2:c.7749+29G>A NP_056389.1:n.7749+29G>A
NM_032217.5:c.7752+29G>A MANE Select NP_115593.3:n.7752+29G>A
NM_198889.3:c.6999+29G>A NP_942592.1:n.6999+29G>A