Canonical Allele Identifier: CA2581917988
Community Standard Title: NM_021937.5(EEFSEC):c.316+22560A>T
Gene: EEFSEC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128176383A>T , CM000665.2:g.128176383A>T GRCh38
NC_000003.11:g.127895226A>T , CM000665.1:g.127895226A>T GRCh37
NC_000003.10:g.129377916A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_021937.5:c.316+22560A>T MANE Select NP_068756.2:n.316+22560A>T
ENST00000254730.11:c.316+22560A>T MANE Select ENSP00000254730.5:n.316+22560A>T
NM_021937.4:c.316+22560A>T NP_068756.2:n.316+22560A>T
ENST00000254730.10:c.316+22560A>T ENSP00000254730.5:n.316+22560A>T
ENST00000483457.1:c.316+22560A>T ENSP00000417660.1:n.316+22560A>T
ENST00000484438.1:n.156+22560A>T
XM_005247696.1:c.316+22560A>T XP_005247753.1:n.316+22560A>T
XM_005247696.3:c.316+22560A>T XP_005247753.1:n.316+22560A>T
XM_011513063.1:c.316+22560A>T XP_011511365.1:n.316+22560A>T
XM_011513064.1:c.316+22560A>T XP_011511366.1:n.316+22560A>T
XM_011513065.1:c.316+22560A>T XP_011511367.1:n.316+22560A>T
XM_024453692.1:c.316+22560A>T XP_024309460.1:n.316+22560A>T
XM_024453693.1:c.316+22560A>T XP_024309461.1:n.316+22560A>T
XM_024453694.1:c.316+22560A>T XP_024309462.1:n.316+22560A>T
XM_024453695.1:c.316+22560A>T XP_024309463.1:n.316+22560A>T
XR_924463.1:n.2521-1721T>A
XR_924464.1:n.2521-2868T>A