Canonical Allele Identifier: CA366628375
Gene: BRAT1 HGNC NCBI

Linked Data

gnomAD v4: 7-2539868-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2539868C>A , CM000669.2:g.2539868C>A GRCh38
NC_000007.13:g.2579502C>A , CM000669.1:g.2579502C>A GRCh37
NC_000007.12:g.2546028C>A NCBI36
NG_032167.1:g.20891G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340611.9:c.1416G>T MANE Select ENSP00000339637.4:p.Gln472His
ENST00000340611.8:c.1416G>T ENSP00000339637.4:p.Gln472His
ENST00000467558.5:n.2788G>T
ENST00000469750.5:n.3988G>T
ENST00000473879.1:n.132G>T
ENST00000493232.5:n.4152G>T
NM_152743.3:c.1416G>T NP_689956.2:p.Gln472His
XM_005249643.3:c.1416G>T XP_005249700.1:p.Gln472His
XM_011515177.1:c.1500G>T XP_011513479.1:p.Gln500His
XM_011515178.1:c.1500G>T XP_011513480.1:p.Gln500His
XM_011515179.1:c.1497G>T XP_011513481.1:p.Gln499His
XM_011515180.1:c.1470G>T XP_011513482.1:p.Gln490His
XM_011515181.1:c.1500G>T XP_011513483.1:p.Gln500His
XM_011515182.1:c.1500G>T XP_011513484.1:p.Gln500His
XM_011515183.1:c.975G>T XP_011513485.1:p.Gln325His
XM_011515184.1:c.975G>T XP_011513486.1:p.Gln325His
XM_011515185.1:c.1416G>T XP_011513487.1:p.Gln472His
XM_011515186.1:c.1500G>T XP_011513488.1:p.Gln500His
XM_011515187.1:c.72G>T XP_011513489.1:p.Gln24His
NM_001350626.1:c.1416G>T NP_001337555.1:p.Gln472His
NM_001350627.1:c.891G>T NP_001337556.1:p.Gln297His
NR_146879.1:n.1833G>T
XM_011515177.2:c.1500G>T XP_011513479.1:p.Gln500His
XM_011515179.2:c.1497G>T XP_011513481.1:p.Gln499His
XM_011515181.2:c.1500G>T XP_011513483.1:p.Gln500His
XM_011515182.2:c.1500G>T XP_011513484.1:p.Gln500His
XM_011515184.3:c.975G>T XP_011513486.1:p.Gln325His
XM_011515186.2:c.1500G>T XP_011513488.1:p.Gln500His
XM_017011833.1:c.1413G>T XP_016867322.1:p.Gln471His
XM_017011834.1:c.1413G>T XP_016867323.1:p.Gln471His
XM_017011836.2:c.1416G>T XP_016867325.1:p.Gln472His
XM_024446682.1:c.72G>T XP_024302450.1:p.Gln24His
NM_152743.4:c.1416G>T MANE Select NP_689956.2:p.Gln472His
NM_001350626.2:c.1416G>T NP_001337555.1:p.Gln472His
NM_001350627.2:c.891G>T NP_001337556.1:p.Gln297His
NR_146879.2:n.1599G>T