Canonical Allele Identifier: CA1620748163

Gene: ANKS1A

Linked Data

• dbSNP Id: rs2005

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35088666A>T , CM000668.2:g.35088666A>T	GRCh38
NC_000006.11:g.35056443A>T , CM000668.1:g.35056443A>T	GRCh37
NC_000006.10:g.35164421A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698906.1:c.*57A>T	ENSP00000514021.1:n.*57A>T
ENST00000698907.1:c.*57A>T	ENSP00000514022.1:n.*57A>T
ENST00000698908.1:c.*57A>T	ENSP00000514023.1:n.*57A>T
ENST00000360359.5:c.*57A>T MANE Select	ENSP00000353518.3:n.*57A>T
ENST00000649117.1:c.*1595A>T	ENSP00000497393.1:n.*1595A>T
ENST00000360359.4:c.*57A>T	ENSP00000353518.3:n.*57A>T
NM_015245.2:c.*57A>T	NP_056060.2:n.*57A>T
XM_005248964.2:c.*57A>T	XP_005249021.1:n.*57A>T
XM_006715036.2:c.*57A>T	XP_006715099.1:n.*57A>T
XM_011514431.1:c.3467+1617A>T	XP_011512733.1:n.3467+1617A>T
XM_011514432.1:c.3464+1617A>T	XP_011512734.1:n.3464+1617A>T
XM_011514434.1:c.3404+1617A>T	XP_011512736.1:n.3404+1617A>T
XM_011514435.1:c.3401+1617A>T	XP_011512737.1:n.3401+1617A>T
XM_011514436.1:c.3269+1617A>T	XP_011512738.1:n.3269+1617A>T
XM_011514437.1:c.1781+1617A>T	XP_011512739.1:n.1781+1617A>T
XM_005248964.3:c.*57A>T	XP_005249021.1:n.*57A>T
XM_011514431.3:c.3467+1617A>T	XP_011512733.1:n.3467+1617A>T
XM_011514432.3:c.3464+1617A>T	XP_011512734.1:n.3464+1617A>T
XM_011514434.3:c.3404+1617A>T	XP_011512736.1:n.3404+1617A>T
XM_011514435.3:c.3401+1617A>T	XP_011512737.1:n.3401+1617A>T
XM_011514436.3:c.3269+1617A>T	XP_011512738.1:n.3269+1617A>T
XM_011514437.3:c.1781+1617A>T	XP_011512739.1:n.1781+1617A>T
XM_017010593.1:c.*57A>T	XP_016866082.1:n.*57A>T
NM_015245.3:c.*57A>T MANE Select	NP_056060.2:n.*57A>T