Canonical Allele Identifier: CA3767950

Gene: ANKS1A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35017781C>G , CM000668.2:g.35017781C>G	GRCh38
NC_000006.11:g.34985558C>G , CM000668.1:g.34985558C>G	GRCh37
NC_000006.10:g.35093536C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015245.3:c.1732C>G MANE Select	NP_056060.2:p.Arg578Gly
ENST00000360359.5:c.1732C>G MANE Select	ENSP00000353518.3:p.Arg578Gly
NM_015245.2:c.1732C>G	NP_056060.2:p.Arg578Gly
ENST00000360359.4:c.1732C>G	ENSP00000353518.3:p.Arg578Gly
ENST00000649117.1:c.1795C>G	ENSP00000497393.1:p.Arg599Gly
XM_005248964.2:c.1795C>G	XP_005249021.1:p.Arg599Gly
XM_005248964.3:c.1795C>G	XP_005249021.1:p.Arg599Gly
XM_006715036.2:c.1795C>G	XP_006715099.1:p.Arg599Gly
XM_011514431.1:c.1795C>G	XP_011512733.1:p.Arg599Gly
XM_011514431.3:c.1795C>G	XP_011512733.1:p.Arg599Gly
XM_011514432.1:c.1795C>G	XP_011512734.1:p.Arg599Gly
XM_011514432.3:c.1795C>G	XP_011512734.1:p.Arg599Gly
XM_011514433.1:c.1795C>G	XP_011512735.1:p.Arg599Gly
XM_011514434.1:c.1732C>G	XP_011512736.1:p.Arg578Gly
XM_011514434.3:c.1732C>G	XP_011512736.1:p.Arg578Gly
XM_011514435.1:c.1732C>G	XP_011512737.1:p.Arg578Gly
XM_011514435.3:c.1732C>G	XP_011512737.1:p.Arg578Gly
XM_011514436.1:c.1597C>G	XP_011512738.1:p.Arg533Gly
XM_011514436.3:c.1597C>G	XP_011512738.1:p.Arg533Gly
XM_011514437.1:c.109C>G	XP_011512739.1:p.Arg37Gly
XM_011514437.3:c.109C>G	XP_011512739.1:p.Arg37Gly
XM_017010593.1:c.109C>G	XP_016866082.1:p.Arg37Gly
XM_024446383.1:c.1795C>G	XP_024302151.1:p.Arg599Gly