Canonical Allele Identifier: CA2261306876
Community Standard Title: NM_000342.4(SLC4A1):c.2312G= (p.Gly771=)
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44251588C= , CM000679.2:g.44251588C= GRCh38
NC_000017.10:g.42328956C= , CM000679.1:g.42328956C= GRCh37
NC_000017.9:g.39684482C= NCBI36
NG_007498.1:g.21547G=

Transcript Alleles

HGVS Amino-acid Change
NM_000342.4:c.2312G= MANE Select NP_000333.1:p.Gly771=
ENST00000262418.12:c.2312G= MANE Select ENSP00000262418.6:p.Gly771=
NM_000342.3:c.2312G= NP_000333.1:p.Gly771=
ENST00000262418.10:c.2312G= ENSP00000262418.6:p.Gly771=
ENST00000399246.3:c.1214G= ENSP00000382190.3:p.Gly405=
XM_005257593.3:c.2117G= XP_005257650.1:p.Gly706=
XM_005257593.5:c.2117G= XP_005257650.1:p.Gly706=
XM_011525129.1:c.2222G= XP_011523431.1:p.Gly741=
XM_011525129.2:c.2222G= XP_011523431.1:p.Gly741=
XM_011525130.1:c.*22G= XP_011523432.1:n.*22G=