Canonical Allele Identifier: CA143987898
Community Standard Title: NM_006828.4(ASCC3):c.4415G>A (p.Arg1472Gln)
Gene: ASCC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.100627948C>T , CM000668.2:g.100627948C>T GRCh38
NC_000006.11:g.101075824C>T , CM000668.1:g.101075824C>T GRCh37
NC_000006.10:g.101182545C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006828.4:c.4415G>A MANE Select NP_006819.2:p.Arg1472Gln
ENST00000369162.7:c.4415G>A MANE Select ENSP00000358159.2:p.Arg1472Gln
NM_006828.3:c.4415G>A NP_006819.2:p.Arg1472Gln
ENST00000369162.6:c.4415G>A ENSP00000358159.2:p.Arg1472Gln
XM_011535394.1:c.4430G>A XP_011533696.1:p.Arg1477Gln
XM_011535394.3:c.4430G>A XP_011533696.1:p.Arg1477Gln
XM_011535395.1:c.4121G>A XP_011533697.1:p.Arg1374Gln
XM_011535395.3:c.4121G>A XP_011533697.1:p.Arg1374Gln
XM_011535396.1:c.4121G>A XP_011533698.1:p.Arg1374Gln
XM_011535396.3:c.4121G>A XP_011533698.1:p.Arg1374Gln
XM_017010205.2:c.4121G>A XP_016865694.1:p.Arg1374Gln
XM_017010206.2:c.2996G>A XP_016865695.1:p.Arg999Gln
XM_024446316.1:c.3617G>A XP_024302084.1:p.Arg1206Gln