Canonical Allele Identifier: CA8241645
Community Standard Title: NM_013275.6(ANKRD11):c.5989G>A (p.Ala1997Thr)
Gene: ANKRD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89280553C>T , CM000678.2:g.89280553C>T GRCh38
NC_000016.9:g.89346961C>T , CM000678.1:g.89346961C>T GRCh37
NC_000016.8:g.87874462C>T NCBI36
NG_032003.1:g.215009G>A
NG_032003.2:g.215009G>A

Transcript Alleles

HGVS Amino-acid Change
NM_013275.6:c.5989G>A MANE Select NP_037407.4:p.Ala1997Thr
ENST00000301030.10:c.5989G>A MANE Select ENSP00000301030.4:p.Ala1997Thr
NM_001256182.1:c.5989G>A NP_001243111.1:p.Ala1997Thr
NM_001256182.2:c.5989G>A NP_001243111.1:p.Ala1997Thr
NM_001256183.1:c.5989G>A NP_001243112.1:p.Ala1997Thr
NM_001256183.2:c.5989G>A NP_001243112.1:p.Ala1997Thr
NM_013275.5:c.5989G>A NP_037407.4:p.Ala1997Thr
ENST00000301030.8:c.5989G>A ENSP00000301030.4:p.Ala1997Thr
ENST00000330736.10:c.*5792G>A ENSP00000330815.5:n.*5792G>A
ENST00000330736.9:c.*5792G>A ENSP00000330815.5:n.*5792G>A
ENST00000378330.6:c.5989G>A ENSP00000367581.2:p.Ala1997Thr
ENST00000378330.7:c.5989G>A ENSP00000367581.2:p.Ala1997Thr
ENST00000562194.1:c.152-5362G>A
ENST00000642600.1:c.5989G>A ENSP00000495226.1:p.Ala1997Thr
ENST00000644285.1:c.745-5362G>A ENSP00000496476.1:n.745-5362G>A
XM_006721181.1:c.5887G>A XP_006721244.1:p.Ala1963Thr
XM_006721184.2:c.5692G>A XP_006721247.1:p.Ala1898Thr
XM_011523051.1:c.5989G>A XP_011521353.1:p.Ala1997Thr
XM_011523051.3:c.5989G>A XP_011521353.1:p.Ala1997Thr
XM_011523052.1:c.5989G>A XP_011521354.1:p.Ala1997Thr
XM_011523053.1:c.5989G>A XP_011521355.1:p.Ala1997Thr
XM_011523053.2:c.5989G>A XP_011521355.1:p.Ala1997Thr
XM_011523054.1:c.5887G>A XP_011521356.1:p.Ala1963Thr
XM_011523054.2:c.5887G>A XP_011521356.1:p.Ala1963Thr
XM_011523055.1:c.5887G>A XP_011521357.1:p.Ala1963Thr
XM_011523055.2:c.5887G>A XP_011521357.1:p.Ala1963Thr
XM_011523056.1:c.5860G>A XP_011521358.1:p.Ala1954Thr
XM_011523056.2:c.5860G>A XP_011521358.1:p.Ala1954Thr
XM_011523057.1:c.5989G>A XP_011521359.1:p.Ala1997Thr
XM_011523057.2:c.5989G>A XP_011521359.1:p.Ala1997Thr
XM_017023182.2:c.5989G>A XP_016878671.1:p.Ala1997Thr
XM_017023183.1:c.5989G>A XP_016878672.1:p.Ala1997Thr
XM_017023184.1:c.5989G>A XP_016878673.1:p.Ala1997Thr
XM_017023185.1:c.5989G>A XP_016878674.1:p.Ala1997Thr
XM_017023186.1:c.5989G>A XP_016878675.1:p.Ala1997Thr
XM_017023187.1:c.5989G>A XP_016878676.1:p.Ala1997Thr
XM_024450244.1:c.5887G>A XP_024306012.1:p.Ala1963Thr