Canonical Allele Identifier: CA1799276216

Gene: CA1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85328598G= , CM000670.2:g.85328598G=	GRCh38
NC_000008.10:g.86240827G= , CM000670.1:g.86240827G=	GRCh37
NC_000008.9:g.86428079G=	NCBI36
NG_016221.1:g.54516C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523022.6:c.748C= MANE Select	ENSP00000429798.1:p.Gln250=
ENST00000431316.3:c.748C=	ENSP00000392338.1:p.Gln250=
ENST00000517618.5:c.748C=	ENSP00000430861.1:p.Gln250=
ENST00000519991.5:c.409C=	ENSP00000430543.1:p.Gln137=
ENST00000521679.5:c.497C=
ENST00000522389.5:c.346C=	ENSP00000427773.1:p.Gln116=
ENST00000523022.5:c.748C=	ENSP00000429798.1:p.Gln250=
ENST00000523953.5:c.748C=	ENSP00000430656.1:p.Gln250=
ENST00000524324.5:c.550C=	ENSP00000428923.1:p.Gln184=
ENST00000542576.5:c.748C=	ENSP00000443517.1:p.Gln250=
ENST00000626824.1:c.346C=	ENSP00000486171.1:p.Gln116=
NM_001128829.3:c.748C=	NP_001122301.1:p.Gln250=
NM_001128830.3:c.748C=	NP_001122302.1:p.Gln250=
NM_001128831.3:c.748C=	NP_001122303.1:p.Gln250=
NM_001164830.1:c.748C=	NP_001158302.1:p.Gln250=
NM_001291967.1:c.550C=	NP_001278896.1:p.Gln184=
NM_001291968.1:c.409C=	NP_001278897.1:p.Gln137=
NM_001738.4:c.748C=	NP_001729.1:p.Gln250=
XM_011517584.1:c.748C=	XP_011515886.1:p.Gln250=
NM_001128829.4:c.748C=	NP_001122301.1:p.Gln250=
NM_001128830.4:c.748C=	NP_001122302.1:p.Gln250=
NM_001128831.4:c.748C= MANE Select	NP_001122303.1:p.Gln250=
NM_001164830.2:c.748C=	NP_001158302.1:p.Gln250=
NM_001291967.2:c.550C=	NP_001278896.1:p.Gln184=
NM_001291968.2:c.409C=	NP_001278897.1:p.Gln137=
NM_001738.5:c.748C=	NP_001729.1:p.Gln250=