Canonical Allele Identifier: CA5472299

Gene: ANKRD30A

Linked Data

• dbSNP Id: rs1148259
• ExAC: 10:37508450 A / C
• gnomAD v2: 10-37508450-A-C
• gnomAD v3: 10-37219522-A-C
• gnomAD v4: 10-37219522-A-C
• MyVariant Identifiers: chr10:g.37508450A>C (hg19) ; chr10:g.37219522A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.37219522A>C , CM000672.2:g.37219522A>C	GRCh38
NC_000010.10:g.37508450A>C , CM000672.1:g.37508450A>C	GRCh37
NC_000010.9:g.37548456A>C	NCBI36
NG_051556.1:g.98781A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696674.1:c.543A>C	ENSP00000512798.1:p.Ala181=
ENST00000361713.2:c.3810A>C MANE Select	ENSP00000354432.2:p.Ala1270=
ENST00000374660.7:c.4167A>C	ENSP00000363792.2:p.Ala1389=
ENST00000602533.7:c.3810A>C	ENSP00000473551.2:p.Ala1270=
ENST00000374660.6:c.4167A>C	ENSP00000363792.2:p.Ala1389=
ENST00000602533.6:c.3810A>C	ENSP00000473551.2:p.Ala1270=
ENST00000361713.1:c.3642A>C	ENSP00000354432.1:p.Ala1214=
ENST00000374660.5:c.3999A>C	ENSP00000363792.1:p.Ala1333=
ENST00000602533.5:c.3642A>C	ENSP00000473551.1:p.Ala1214=
ENST00000611781.4:c.3810A>C	ENSP00000477963.1:p.Ala1270=
NM_052997.2:c.3642A>C	NP_443723.2:p.Ala1214=
XM_011519757.1:c.4251A>C	XP_011518059.1:p.Ala1417=
XR_930524.1:n.4297A>C
XM_011519757.3:c.4251A>C	XP_011518059.1:p.Ala1417=
XM_011519758.2:c.*488A>C	XP_011518060.1:n.*488A>C
XM_017016883.2:c.1971A>C	XP_016872372.1:p.Ala657=
XR_001747257.1:n.4285A>C
XR_002957039.1:n.4285A>C
XR_002957040.1:n.4285A>C
XR_002957041.1:n.4285A>C
XR_002957042.1:n.4285A>C
XR_002957043.1:n.4285A>C
XR_002957044.1:n.4285A>C
XR_002957045.1:n.4285A>C
XR_002957046.1:n.4285A>C
XR_002957047.1:n.4285A>C
XR_002957048.1:n.4285A>C
XR_930524.3:n.4285A>C
NM_052997.3:c.3810A>C MANE Select	NP_443723.3:p.Ala1270=