Canonical Allele Identifier: CA2261309963

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44258416G= , CM000679.2:g.44258416G=	GRCh38
NC_000017.10:g.42335784G= , CM000679.1:g.42335784G=	GRCh37
NC_000017.9:g.39691310G=	NCBI36
NG_007498.1:g.14719C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.1084C= MANE Select	ENSP00000262418.6:p.Leu362=
ENST00000262418.10:c.1084C=	ENSP00000262418.6:p.Leu362=
ENST00000399246.3:c.777+846C=	ENSP00000382190.3:n.777+846C=
ENST00000497360.5:n.1223C=
NM_000342.3:c.1084C=	NP_000333.1:p.Leu362=
XM_005257593.3:c.889C=	XP_005257650.1:p.Leu297=
XM_011525129.1:c.1084C=	XP_011523431.1:p.Leu362=
XM_011525130.1:c.1084C=	XP_011523432.1:p.Leu362=
XM_011525131.1:c.1084C=	XP_011523433.1:p.Leu362=
XM_005257593.5:c.889C=	XP_005257650.1:p.Leu297=
XM_011525129.2:c.1084C=	XP_011523431.1:p.Leu362=
NM_000342.4:c.1084C= MANE Select	NP_000333.1:p.Leu362=