Canonical Allele Identifier: CA2261309995
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44258515C= , CM000679.2:g.44258515C= GRCh38
NC_000017.10:g.42335883C= , CM000679.1:g.42335883C= GRCh37
NC_000017.9:g.39691409C= NCBI36
NG_007498.1:g.14620G=

Transcript Alleles

HGVS Amino-acid change
ENST00000262418.12:c.985G= MANE Select ENSP00000262418.6:p.Glu329=
ENST00000262418.10:c.985G= ENSP00000262418.6:p.Glu329=
ENST00000399246.3:c.777+747G= ENSP00000382190.3:n.777+747G=
ENST00000497360.5:n.1124G=
NM_000342.3:c.985G= NP_000333.1:p.Glu329=
XM_005257593.3:c.790G= XP_005257650.1:p.Glu264=
XM_011525129.1:c.985G= XP_011523431.1:p.Glu329=
XM_011525130.1:c.985G= XP_011523432.1:p.Glu329=
XM_011525131.1:c.985G= XP_011523433.1:p.Glu329=
XM_005257593.5:c.790G= XP_005257650.1:p.Glu264=
XM_011525129.2:c.985G= XP_011523431.1:p.Glu329=
NM_000342.4:c.985G= MANE Select NP_000333.1:p.Glu329=