Canonical Allele Identifier: CA144009028
Community Standard Title: NM_006828.4(ASCC3):c.2554C>T (p.Arg852Ter)
Gene: ASCC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.100661955G>A , CM000668.2:g.100661955G>A GRCh38
NC_000006.11:g.101109831G>A , CM000668.1:g.101109831G>A GRCh37
NC_000006.10:g.101216552G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006828.4:c.2554C>T MANE Select NP_006819.2:p.Arg852Ter
ENST00000369162.7:c.2554C>T MANE Select ENSP00000358159.2:p.Arg852Ter
NM_006828.3:c.2554C>T NP_006819.2:p.Arg852Ter
ENST00000324696.8:c.*2256C>T ENSP00000320252.4:n.*2256C>T
ENST00000369162.6:c.2554C>T ENSP00000358159.2:p.Arg852Ter
XM_011535394.1:c.2569C>T XP_011533696.1:p.Arg857Ter
XM_011535394.3:c.2569C>T XP_011533696.1:p.Arg857Ter
XM_011535395.1:c.2260C>T XP_011533697.1:p.Arg754Ter
XM_011535395.3:c.2260C>T XP_011533697.1:p.Arg754Ter
XM_011535396.1:c.2260C>T XP_011533698.1:p.Arg754Ter
XM_011535396.3:c.2260C>T XP_011533698.1:p.Arg754Ter
XM_017010205.2:c.2260C>T XP_016865694.1:p.Arg754Ter
XM_017010206.2:c.1135C>T XP_016865695.1:p.Arg379Ter
XM_024446316.1:c.1756C>T XP_024302084.1:p.Arg586Ter