Canonical Allele Identifier: CA452990004

Gene: ARID1B

Linked Data

• dbSNP Id: rs1789972465
• gnomAD v4: 6-157148652-T-C
• MyVariant Identifiers: chr6:g.157469786T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157148652T>C , CM000668.2:g.157148652T>C	GRCh38
NC_000006.11:g.157469786T>C , CM000668.1:g.157469786T>C	GRCh37
NC_000006.10:g.157511478T>C	NCBI36
NG_032093.1:g.375723T>C
NG_032093.2:g.375723T>C
NG_066624.1:g.377627T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.2790T>C	ENSP00000055163.8:p.Ser930=
ENST00000414678.8:c.2700T>C	ENSP00000412835.3:p.Ser900=
ENST00000637015.2:c.2790T>C	ENSP00000489729.2:p.Ser930=
ENST00000319584.11:c.804T>C	ENSP00000313006.7:p.Ser268=
ENST00000346085.10:c.2829T>C	ENSP00000344546.5:p.Ser943=
ENST00000350026.10:c.2541T>C	ENSP00000055163.7:p.Ser847=
ENST00000414678.7:c.948T>C	ENSP00000412835.2:p.Ser316=
ENST00000452544.2:n.691T>C
ENST00000635849.1:c.111T>C	ENSP00000490948.1:p.Ser37=
ENST00000636930.2:c.2790T>C MANE Select	ENSP00000490491.2:p.Ser930=
ENST00000637015.1:c.29T>C
ENST00000637810.1:c.291T>C	ENSP00000489636.1:p.Ser97=
ENST00000637904.1:c.291T>C	ENSP00000490550.1:p.Ser97=
ENST00000647938.1:c.2580T>C	ENSP00000498155.1:p.Ser860=
ENST00000674190.1:n.1539T>C
ENST00000319584.10:c.807T>C	ENSP00000313006.6:p.Ser269=
ENST00000346085.9:c.2580T>C	ENSP00000344546.4:p.Ser860=
ENST00000350026.9:c.2541T>C	ENSP00000055163.7:p.Ser847=
ENST00000414678.6:c.948T>C	ENSP00000412835.2:p.Ser316=
ENST00000452544.1:n.637T>C
NM_017519.2:c.2541T>C	NP_059989.2:p.Ser847=
NM_020732.3:c.2580T>C	NP_065783.3:p.Ser860=
XM_005267069.3:c.2541T>C	XP_005267126.2:p.Ser847=
XM_011535984.1:c.1491T>C	XP_011534286.1:p.Ser497=
XM_011535985.1:c.1311T>C	XP_011534287.1:p.Ser437=
XM_011535986.1:c.1071T>C	XP_011534288.1:p.Ser357=
XM_011535987.1:c.690T>C	XP_011534289.1:p.Ser230=
XM_011535988.1:c.-20+15445T>C	XP_011534290.1:n.-20+15445T>C
NM_001346813.1:c.2541T>C	NP_001333742.1:p.Ser847=
NM_001363725.1:c.291T>C	NP_001350654.1:p.Ser97=
XM_011535984.2:c.2622T>C	XP_011534286.2:p.Ser874=
XM_011535988.3:c.-20+15445T>C	XP_011534290.1:n.-20+15445T>C
XM_017011103.2:c.2622T>C	XP_016866592.1:p.Ser874=
XM_017011104.1:c.2622T>C	XP_016866593.1:p.Ser874=
XM_017011105.2:c.2622T>C	XP_016866594.1:p.Ser874=
XM_017011106.2:c.2622T>C	XP_016866595.1:p.Ser874=
XM_017011107.2:c.2442T>C	XP_016866596.1:p.Ser814=
XR_002956289.1:n.2705T>C
NM_001363725.2:c.291T>C	NP_001350654.1:p.Ser97=
NM_001371656.1:c.2829T>C	NP_001358585.1:p.Ser943=
NM_001374820.1:c.2829T>C	NP_001361749.1:p.Ser943=
NM_001374828.1:c.2790T>C MANE Select	NP_001361757.1:p.Ser930=
NM_017519.3:c.2790T>C	NP_059989.3:p.Ser930=