Canonical Allele Identifier: CA4382918
Community Standard Title: NM_173564.4(NYAP1):c.748G>A (p.Ala250Thr)
Gene: NYAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100488469G>A , CM000669.2:g.100488469G>A GRCh38
NC_000007.13:g.100086092G>A , CM000669.1:g.100086092G>A GRCh37
NC_000007.12:g.99924028G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_173564.4:c.748G>A MANE Select NP_775835.2:p.Ala250Thr
ENST00000300179.7:c.748G>A MANE Select ENSP00000300179.2:p.Ala250Thr
NM_173564.3:c.748G>A NP_775835.2:p.Ala250Thr
ENST00000300179.6:c.748G>A ENSP00000300179.2:p.Ala250Thr
ENST00000454988.1:c.577G>A ENSP00000394424.1:p.Ala193Thr
XM_005250228.3:c.748G>A XP_005250285.1:p.Ala250Thr
XM_006715907.2:c.748G>A XP_006715970.1:p.Ala250Thr
XM_006715907.4:c.748G>A XP_006715970.1:p.Ala250Thr
XM_006715908.2:c.748G>A XP_006715971.1:p.Ala250Thr
XM_017011868.2:c.748G>A XP_016867357.1:p.Ala250Thr