Canonical Allele Identifier: CA2261307725
Community Standard Title: NM_000342.4(SLC4A1):c.2068A= (p.Ser690=)
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44253361T= , CM000679.2:g.44253361T= GRCh38
NC_000017.10:g.42330729T= , CM000679.1:g.42330729T= GRCh37
NC_000017.9:g.39686255T= NCBI36
NG_007498.1:g.19774A=

Transcript Alleles

HGVS Amino-acid Change
NM_000342.4:c.2068A= MANE Select NP_000333.1:p.Ser690=
ENST00000262418.12:c.2068A= MANE Select ENSP00000262418.6:p.Ser690=
NM_000342.3:c.2068A= NP_000333.1:p.Ser690=
ENST00000262418.10:c.2068A= ENSP00000262418.6:p.Ser690=
ENST00000399246.3:c.970A= ENSP00000382190.3:p.Ser324=
XM_005257593.3:c.1873A= XP_005257650.1:p.Ser625=
XM_005257593.5:c.1873A= XP_005257650.1:p.Ser625=
XM_011525129.1:c.1978A= XP_011523431.1:p.Ser660=
XM_011525129.2:c.1978A= XP_011523431.1:p.Ser660=
XM_011525130.1:c.2068A= XP_011523432.1:p.Ser690=