Canonical Allele Identifier: CA2261308253

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254501G= , CM000679.2:g.44254501G=	GRCh38
NC_000017.10:g.42331869G= , CM000679.1:g.42331869G=	GRCh37
NC_000017.9:g.39687395G=	NCBI36
NG_007498.1:g.18634C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2052C= MANE Select	ENSP00000262418.6:p.Ile684=
ENST00000262418.10:c.2052C=	ENSP00000262418.6:p.Ile684=
ENST00000399246.3:c.954C=	ENSP00000382190.3:p.Ile318=
NM_000342.3:c.2052C=	NP_000333.1:p.Ile684=
XM_005257593.3:c.1857C=	XP_005257650.1:p.Ile619=
XM_011525129.1:c.1962C=	XP_011523431.1:p.Ile654=
XM_011525130.1:c.2052C=	XP_011523432.1:p.Ile684=
XM_011525131.1:c.2052C=	XP_011523433.1:p.Ile684=
XM_005257593.5:c.1857C=	XP_005257650.1:p.Ile619=
XM_011525129.2:c.1962C=	XP_011523431.1:p.Ile654=
NM_000342.4:c.2052C= MANE Select	NP_000333.1:p.Ile684=