Canonical Allele Identifier: CA366628373
Gene: BRAT1 HGNC NCBI

Linked Data

gnomAD v4: 7-2539867-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2539867C>A , CM000669.2:g.2539867C>A GRCh38
NC_000007.13:g.2579501C>A , CM000669.1:g.2579501C>A GRCh37
NC_000007.12:g.2546027C>A NCBI36
NG_032167.1:g.20892G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340611.9:c.1417G>T MANE Select ENSP00000339637.4:p.Ala473Ser
ENST00000340611.8:c.1417G>T ENSP00000339637.4:p.Ala473Ser
ENST00000467558.5:n.2789G>T
ENST00000469750.5:n.3989G>T
ENST00000473879.1:n.133G>T
ENST00000493232.5:n.4153G>T
NM_152743.3:c.1417G>T NP_689956.2:p.Ala473Ser
XM_005249643.3:c.1417G>T XP_005249700.1:p.Ala473Ser
XM_011515177.1:c.1501G>T XP_011513479.1:p.Ala501Ser
XM_011515178.1:c.1501G>T XP_011513480.1:p.Ala501Ser
XM_011515179.1:c.1498G>T XP_011513481.1:p.Ala500Ser
XM_011515180.1:c.1471G>T XP_011513482.1:p.Ala491Ser
XM_011515181.1:c.1501G>T XP_011513483.1:p.Ala501Ser
XM_011515182.1:c.1501G>T XP_011513484.1:p.Ala501Ser
XM_011515183.1:c.976G>T XP_011513485.1:p.Ala326Ser
XM_011515184.1:c.976G>T XP_011513486.1:p.Ala326Ser
XM_011515185.1:c.1417G>T XP_011513487.1:p.Ala473Ser
XM_011515186.1:c.1501G>T XP_011513488.1:p.Ala501Ser
XM_011515187.1:c.73G>T XP_011513489.1:p.Ala25Ser
NM_001350626.1:c.1417G>T NP_001337555.1:p.Ala473Ser
NM_001350627.1:c.892G>T NP_001337556.1:p.Ala298Ser
NR_146879.1:n.1834G>T
XM_011515177.2:c.1501G>T XP_011513479.1:p.Ala501Ser
XM_011515179.2:c.1498G>T XP_011513481.1:p.Ala500Ser
XM_011515181.2:c.1501G>T XP_011513483.1:p.Ala501Ser
XM_011515182.2:c.1501G>T XP_011513484.1:p.Ala501Ser
XM_011515184.3:c.976G>T XP_011513486.1:p.Ala326Ser
XM_011515186.2:c.1501G>T XP_011513488.1:p.Ala501Ser
XM_017011833.1:c.1414G>T XP_016867322.1:p.Ala472Ser
XM_017011834.1:c.1414G>T XP_016867323.1:p.Ala472Ser
XM_017011836.2:c.1417G>T XP_016867325.1:p.Ala473Ser
XM_024446682.1:c.73G>T XP_024302450.1:p.Ala25Ser
NM_152743.4:c.1417G>T MANE Select NP_689956.2:p.Ala473Ser
NM_001350626.2:c.1417G>T NP_001337555.1:p.Ala473Ser
NM_001350627.2:c.892G>T NP_001337556.1:p.Ala298Ser
NR_146879.2:n.1600G>T