Canonical Allele Identifier: CA461785662
Gene: CA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.86240828G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.85328599G>C , CM000670.2:g.85328599G>C GRCh38
NC_000008.10:g.86240828G>C , CM000670.1:g.86240828G>C GRCh37
NC_000008.9:g.86428080G>C NCBI36
NG_016221.1:g.54515C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000523022.6:c.747C>G MANE Select ENSP00000429798.1:p.Thr249=
ENST00000431316.3:c.747C>G ENSP00000392338.1:p.Thr249=
ENST00000517618.5:c.747C>G ENSP00000430861.1:p.Thr249=
ENST00000519991.5:c.408C>G ENSP00000430543.1:p.Thr136=
ENST00000521679.5:c.496C>G
ENST00000522389.5:c.345C>G ENSP00000427773.1:p.Thr115=
ENST00000523022.5:c.747C>G ENSP00000429798.1:p.Thr249=
ENST00000523953.5:c.747C>G ENSP00000430656.1:p.Thr249=
ENST00000524324.5:c.549C>G ENSP00000428923.1:p.Thr183=
ENST00000542576.5:c.747C>G ENSP00000443517.1:p.Thr249=
ENST00000626824.1:c.345C>G ENSP00000486171.1:p.Thr115=
NM_001128829.3:c.747C>G NP_001122301.1:p.Thr249=
NM_001128830.3:c.747C>G NP_001122302.1:p.Thr249=
NM_001128831.3:c.747C>G NP_001122303.1:p.Thr249=
NM_001164830.1:c.747C>G NP_001158302.1:p.Thr249=
NM_001291967.1:c.549C>G NP_001278896.1:p.Thr183=
NM_001291968.1:c.408C>G NP_001278897.1:p.Thr136=
NM_001738.4:c.747C>G NP_001729.1:p.Thr249=
XM_011517584.1:c.747C>G XP_011515886.1:p.Thr249=
NM_001128829.4:c.747C>G NP_001122301.1:p.Thr249=
NM_001128830.4:c.747C>G NP_001122302.1:p.Thr249=
NM_001128831.4:c.747C>G MANE Select NP_001122303.1:p.Thr249=
NM_001164830.2:c.747C>G NP_001158302.1:p.Thr249=
NM_001291967.2:c.549C>G NP_001278896.1:p.Thr183=
NM_001291968.2:c.408C>G NP_001278897.1:p.Thr136=
NM_001738.5:c.747C>G NP_001729.1:p.Thr249=