Canonical Allele Identifier: CA824192699

Gene: ANKS1A

Linked Data

• dbSNP Id: rs1368392149
• gnomAD v3: 6-35037392-C-T
• gnomAD v4: 6-35037392-C-T
• MyVariant Identifiers: chr6:g.35005169C>T (hg19) ; chr6:g.35037392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35037392C>T , CM000668.2:g.35037392C>T	GRCh38
NC_000006.11:g.35005169C>T , CM000668.1:g.35005169C>T	GRCh37
NC_000006.10:g.35113147C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360359.5:c.2011-16707C>T MANE Select	ENSP00000353518.3:n.2011-16707C>T
ENST00000649117.1:c.2074-16707C>T	ENSP00000497393.1:n.2074-16707C>T
ENST00000360359.4:c.2011-16707C>T	ENSP00000353518.3:n.2011-16707C>T
NM_015245.2:c.2011-16707C>T	NP_056060.2:n.2011-16707C>T
XM_005248964.2:c.2074-16707C>T	XP_005249021.1:n.2074-16707C>T
XM_006715036.2:c.2074-16707C>T	XP_006715099.1:n.2074-16707C>T
XM_011514431.1:c.2074-16707C>T	XP_011512733.1:n.2074-16707C>T
XM_011514432.1:c.2074-16707C>T	XP_011512734.1:n.2074-16707C>T
XM_011514433.1:c.2074-16707C>T	XP_011512735.1:n.2074-16707C>T
XM_011514434.1:c.2011-16707C>T	XP_011512736.1:n.2011-16707C>T
XM_011514435.1:c.2011-16707C>T	XP_011512737.1:n.2011-16707C>T
XM_011514436.1:c.1876-16707C>T	XP_011512738.1:n.1876-16707C>T
XM_011514437.1:c.388-16707C>T	XP_011512739.1:n.388-16707C>T
XM_005248964.3:c.2074-16707C>T	XP_005249021.1:n.2074-16707C>T
XM_011514431.3:c.2074-16707C>T	XP_011512733.1:n.2074-16707C>T
XM_011514432.3:c.2074-16707C>T	XP_011512734.1:n.2074-16707C>T
XM_011514434.3:c.2011-16707C>T	XP_011512736.1:n.2011-16707C>T
XM_011514435.3:c.2011-16707C>T	XP_011512737.1:n.2011-16707C>T
XM_011514436.3:c.1876-16707C>T	XP_011512738.1:n.1876-16707C>T
XM_011514437.3:c.388-16707C>T	XP_011512739.1:n.388-16707C>T
XM_017010593.1:c.388-16707C>T	XP_016866082.1:n.388-16707C>T
XM_024446383.1:c.2074-16707C>T	XP_024302151.1:n.2074-16707C>T
NM_015245.3:c.2011-16707C>T MANE Select	NP_056060.2:n.2011-16707C>T