Canonical Allele Identifier: CA2261311427
Community Standard Title: NM_000342.4(SLC4A1):c.118G= (p.Glu40=)
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44261625C= , CM000679.2:g.44261625C= GRCh38
NC_000017.10:g.42338993C= , CM000679.1:g.42338993C= GRCh37
NC_000017.9:g.39694519C= NCBI36
NG_007498.1:g.11510G=

Transcript Alleles

HGVS Amino-acid Change
NM_000342.4:c.118G= MANE Select NP_000333.1:p.Glu40=
ENST00000262418.12:c.118G= MANE Select ENSP00000262418.6:p.Glu40=
NM_000342.3:c.118G= NP_000333.1:p.Glu40=
ENST00000262418.10:c.118G= ENSP00000262418.6:p.Glu40=
ENST00000399246.3:c.118G= ENSP00000382190.3:p.Glu40=
ENST00000471005.5:n.52G=
ENST00000497360.5:n.257G=
ENST00000498270.1:n.399G=
XM_005257593.3:c.-78G= XP_005257650.1:n.-78G=
XM_005257593.5:c.-78G= XP_005257650.1:n.-78G=
XM_011525129.1:c.118G= XP_011523431.1:p.Glu40=
XM_011525129.2:c.118G= XP_011523431.1:p.Glu40=
XM_011525130.1:c.118G= XP_011523432.1:p.Glu40=
XM_011525131.1:c.118G= XP_011523433.1:p.Glu40=