Canonical Allele Identifier: CA2261307673
Community Standard Title: NM_000342.4(SLC4A1):c.2191T= (p.Ser731=)
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44253238A= , CM000679.2:g.44253238A= GRCh38
NC_000017.10:g.42330606A= , CM000679.1:g.42330606A= GRCh37
NC_000017.9:g.39686132A= NCBI36
NG_007498.1:g.19897T=

Transcript Alleles

HGVS Amino-acid Change
NM_000342.4:c.2191T= MANE Select NP_000333.1:p.Ser731=
ENST00000262418.12:c.2191T= MANE Select ENSP00000262418.6:p.Ser731=
NM_000342.3:c.2191T= NP_000333.1:p.Ser731=
ENST00000262418.10:c.2191T= ENSP00000262418.6:p.Ser731=
ENST00000399246.3:c.1093T= ENSP00000382190.3:p.Ser365=
XM_005257593.3:c.1996T= XP_005257650.1:p.Ser666=
XM_005257593.5:c.1996T= XP_005257650.1:p.Ser666=
XM_011525129.1:c.2101T= XP_011523431.1:p.Ser701=
XM_011525129.2:c.2101T= XP_011523431.1:p.Ser701=
XM_011525130.1:c.2191T= XP_011523432.1:p.Ser731=