Canonical Allele Identifier: CA371418426
Gene: CA1 HGNC NCBI

Linked Data

dbSNP Id: rs1808264134

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.85328573C>A , CM000670.2:g.85328573C>A GRCh38
NC_000008.10:g.86240802C>A , CM000670.1:g.86240802C>A GRCh37
NC_000008.9:g.86428054C>A NCBI36
NG_016221.1:g.54541G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000523022.6:c.773G>T MANE Select ENSP00000429798.1:p.Arg258Ile
ENST00000431316.3:c.773G>T ENSP00000392338.1:p.Arg258Ile
ENST00000521679.5:c.522G>T
ENST00000522389.5:c.371G>T ENSP00000427773.1:p.Arg124Ile
ENST00000523022.5:c.773G>T ENSP00000429798.1:p.Arg258Ile
ENST00000523953.5:c.773G>T ENSP00000430656.1:p.Arg258Ile
ENST00000524324.5:c.575G>T ENSP00000428923.1:p.Arg192Ile
ENST00000542576.5:c.773G>T ENSP00000443517.1:p.Arg258Ile
ENST00000626824.1:c.371G>T ENSP00000486171.1:p.Arg124Ile
NM_001128829.3:c.773G>T NP_001122301.1:p.Arg258Ile
NM_001128830.3:c.773G>T NP_001122302.1:p.Arg258Ile
NM_001128831.3:c.773G>T NP_001122303.1:p.Arg258Ile
NM_001164830.1:c.773G>T NP_001158302.1:p.Arg258Ile
NM_001291967.1:c.575G>T NP_001278896.1:p.Arg192Ile
NM_001291968.1:c.434G>T NP_001278897.1:p.Arg145Ile
NM_001738.4:c.773G>T NP_001729.1:p.Arg258Ile
XM_011517584.1:c.773G>T XP_011515886.1:p.Arg258Ile
NM_001128829.4:c.773G>T NP_001122301.1:p.Arg258Ile
NM_001128830.4:c.773G>T NP_001122302.1:p.Arg258Ile
NM_001128831.4:c.773G>T MANE Select NP_001122303.1:p.Arg258Ile
NM_001164830.2:c.773G>T NP_001158302.1:p.Arg258Ile
NM_001291967.2:c.575G>T NP_001278896.1:p.Arg192Ile
NM_001291968.2:c.434G>T NP_001278897.1:p.Arg145Ile
NM_001738.5:c.773G>T NP_001729.1:p.Arg258Ile