Canonical Allele Identifier: CA1836472
Community Standard Title: NM_001393655.1(NT5DC4):c.*59C>T
Gene: NT5DC4 HGNC NCBI
CKAP2L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112738995C>T , CM000664.2:g.112738995C>T GRCh38
NC_000002.11:g.113496572C>T , CM000664.1:g.113496572C>T GRCh37
NC_000002.10:g.113213043C>T NCBI36
NG_041820.1:g.30683G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001393655.1:c.*59C>T (NT5DC4) MANE Select NP_001380584.1:n.*59C>T
NM_152515.5:c.2066G>A (CKAP2L) MANE Select NP_689728.3:p.Arg689His
ENST00000302450.11:c.2066G>A (CKAP2L) MANE Select ENSP00000305204.6:p.Arg689His
ENST00000688554.1:c.*59C>T (NT5DC4) MANE Select ENSP00000509504.1:n.*59C>T
NM_001304361.1:c.1571G>A (CKAP2L) NP_001291290.1:p.Arg524His
NM_001304361.2:c.1571G>A (CKAP2L) NP_001291290.1:p.Arg524His
NM_001350494.1:c.1249-3417C>T (NT5DC4) NP_001337423.1:n.1249-3417C>T
NM_001350494.2:c.1249-3417C>T (NT5DC4) NP_001337423.1:n.1249-3417C>T
NM_152515.4:c.2066G>A (CKAP2L) NP_689728.3:p.Arg689His
NR_130712.1:n.1387G>A (CKAP2L)
NR_130712.2:n.1319G>A (CKAP2L)
ENST00000302450.10:c.2066G>A (CKAP2L) ENSP00000305204.6:p.Arg689His
ENST00000327581.4:c.1249-3417C>T (NT5DC4) ENSP00000330247.4:n.1249-3417C>T
ENST00000435431.5:c.*741G>A (CKAP2L) ENSP00000414834.1:n.*741G>A
ENST00000491170.1:n.131C>T (NT5DC4)
ENST00000689550.1:c.1216-1525C>T (NT5DC4) ENSP00000509747.1:n.1216-1525C>T
ENST00000690591.1:c.1345-1525C>T (NT5DC4) ENSP00000508583.1:n.1345-1525C>T
XM_011510666.1:c.1571G>A (CKAP2L) XP_011508968.1:p.Arg524His
XM_011510666.2:c.1571G>A (CKAP2L) XP_011508968.1:p.Arg524His
XM_011512262.1:c.1537-1525C>T (NT5DC4) XP_011510564.1:n.1537-1525C>T
XM_011512262.2:c.1537-1525C>T (NT5DC4) XP_011510564.1:n.1537-1525C>T
XM_011512263.1:c.1381-1525C>T (NT5DC4) XP_011510565.1:n.1381-1525C>T
XM_011512264.1:c.1249-3417C>T (NT5DC4) XP_011510566.1:n.1249-3417C>T
XM_011512265.1:c.916-1525C>T (NT5DC4) XP_011510567.1:n.916-1525C>T
XM_011512265.2:c.916-1525C>T (NT5DC4) XP_011510567.1:n.916-1525C>T
XM_011512266.1:c.871-1525C>T (NT5DC4) XP_011510568.1:n.871-1525C>T
XM_017005474.1:c.1519-1525C>T (NT5DC4) XP_016860963.1:n.1519-1525C>T
XM_017005475.1:c.1519-3417C>T (NT5DC4) XP_016860964.1:n.1519-3417C>T
XM_017005476.1:c.1345-1525C>T (NT5DC4) XP_016860965.1:n.1345-1525C>T
XM_017005477.1:c.1273-1525C>T (NT5DC4) XP_016860966.1:n.1273-1525C>T
XM_017005478.1:c.1216-1525C>T (NT5DC4) XP_016860967.1:n.1216-1525C>T
XM_024452799.1:c.1552-1525C>T (NT5DC4) XP_024308567.1:n.1552-1525C>T
XM_024452800.1:c.1534-1525C>T (NT5DC4) XP_024308568.1:n.1534-1525C>T
XM_024452802.1:c.1552-3417C>T (NT5DC4) XP_024308570.1:n.1552-3417C>T
XM_024452803.1:c.1426-1525C>T (NT5DC4) XP_024308571.1:n.1426-1525C>T
XM_024452804.1:c.*59C>T (NT5DC4) XP_024308572.1:n.*59C>T
XM_024452807.1:c.1381-1525C>T (NT5DC4) XP_024308575.1:n.1381-1525C>T
XM_024452808.1:c.1255-1525C>T (NT5DC4) XP_024308576.1:n.1255-1525C>T
XR_002959269.1:n.1778-3417C>T (NT5DC4)
XR_002959270.1:n.1778-1525C>T (NT5DC4)
XR_002959271.1:n.1515-3417C>T (NT5DC4)
XR_002959277.1:n.1236-3417C>T (NT5DC4)