Canonical Allele Identifier: CA2261307728

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44253369A= , CM000679.2:g.44253369A=	GRCh38
NC_000017.10:g.42330737A= , CM000679.1:g.42330737A=	GRCh37
NC_000017.9:g.39686263A=	NCBI36
NG_007498.1:g.19766T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.2060T= MANE Select	NP_000333.1:p.Leu687=
ENST00000262418.12:c.2060T= MANE Select	ENSP00000262418.6:p.Leu687=
NM_000342.3:c.2060T=	NP_000333.1:p.Leu687=
ENST00000262418.10:c.2060T=	ENSP00000262418.6:p.Leu687=
ENST00000399246.3:c.962T=	ENSP00000382190.3:p.Leu321=
XM_005257593.3:c.1865T=	XP_005257650.1:p.Leu622=
XM_005257593.5:c.1865T=	XP_005257650.1:p.Leu622=
XM_011525129.1:c.1970T=	XP_011523431.1:p.Leu657=
XM_011525129.2:c.1970T=	XP_011523431.1:p.Leu657=
XM_011525130.1:c.2060T=	XP_011523432.1:p.Leu687=