Canonical Allele Identifier: CA1290420830
Community Standard Title: NM_138326.3(ACMSD):c.892G= (p.Glu298=)
Gene: ACMSD HGNC NCBI
CCNT2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.134898383G= , CM000664.2:g.134898383G= GRCh38
NC_000002.11:g.135655953G= , CM000664.1:g.135655953G= GRCh37
NC_000002.10:g.135372423G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_138326.3:c.892G= (ACMSD) MANE Select NP_612199.2:p.Glu298=
ENST00000356140.10:c.892G= (ACMSD) MANE Select ENSP00000348459.5:p.Glu298=
NM_001307983.1:c.718G= (ACMSD) NP_001294912.1:p.Glu240=
NM_001307983.2:c.718G= (ACMSD) NP_001294912.1:p.Glu240=
NM_138326.2:c.892G= (ACMSD) NP_612199.2:p.Glu298=
NR_036549.1:n.44+20180C= (CCNT2-AS1)
ENST00000356140.9:c.892G= (ACMSD) ENSP00000348459.5:p.Glu298=
ENST00000392928.5:c.718G= (ACMSD) ENSP00000376659.1:p.Glu240=
XM_005263586.3:c.745G= (ACMSD) XP_005263643.1:p.Glu249=
XM_005263586.4:c.745G= (ACMSD) XP_005263643.1:p.Glu249=
XM_005263588.3:c.718G= (ACMSD) XP_005263645.1:p.Glu240=
XM_005263588.4:c.718G= (ACMSD) XP_005263645.1:p.Glu240=
XM_005263589.3:c.706G= (ACMSD) XP_005263646.1:p.Glu236=
XM_005263589.4:c.706G= (ACMSD) XP_005263646.1:p.Glu236=
XM_005263590.3:c.685G= (ACMSD) XP_005263647.1:p.Glu229=
XM_005263590.4:c.685G= (ACMSD) XP_005263647.1:p.Glu229=
XM_011510592.1:c.718G= (ACMSD) XP_011508894.1:p.Glu240=
XM_011510592.2:c.718G= (ACMSD) XP_011508894.1:p.Glu240=
XM_017003325.1:c.718G= (ACMSD) XP_016858814.1:p.Glu240=
XM_017003326.1:c.718G= (ACMSD) XP_016858815.1:p.Glu240=
XM_024452690.1:c.706G= (ACMSD) XP_024308458.1:p.Glu236=
XM_024452691.1:c.706G= (ACMSD) XP_024308459.1:p.Glu236=