Canonical Allele Identifier: CA2261308785
Community Standard Title: NM_000342.4(SLC4A1):c.1765C= (p.Arg589=)
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44255708G= , CM000679.2:g.44255708G= GRCh38
NC_000017.10:g.42333076G= , CM000679.1:g.42333076G= GRCh37
NC_000017.9:g.39688602G= NCBI36
NG_007498.1:g.17427C=

Transcript Alleles

HGVS Amino-acid Change
NM_000342.4:c.1765C= MANE Select NP_000333.1:p.Arg589=
ENST00000262418.12:c.1765C= MANE Select ENSP00000262418.6:p.Arg589=
NM_000342.3:c.1765C= NP_000333.1:p.Arg589=
ENST00000262418.10:c.1765C= ENSP00000262418.6:p.Arg589=
ENST00000399246.3:c.778-487C= ENSP00000382190.3:n.778-487C=
XM_005257593.3:c.1570C= XP_005257650.1:p.Arg524=
XM_005257593.5:c.1570C= XP_005257650.1:p.Arg524=
XM_011525129.1:c.1765C= XP_011523431.1:p.Arg589=
XM_011525129.2:c.1765C= XP_011523431.1:p.Arg589=
XM_011525130.1:c.1765C= XP_011523432.1:p.Arg589=
XM_011525131.1:c.1765C= XP_011523433.1:p.Arg589=