Canonical Allele Identifier: CA399781883

Gene: SLC4A1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.2068A>T MANE Select	NP_000333.1:p.Ser690Cys
ENST00000262418.12:c.2068A>T MANE Select	ENSP00000262418.6:p.Ser690Cys
NM_000342.3:c.2068A>T	NP_000333.1:p.Ser690Cys
ENST00000262418.10:c.2068A>T	ENSP00000262418.6:p.Ser690Cys
ENST00000399246.3:c.970A>T	ENSP00000382190.3:p.Ser324Cys
XM_005257593.3:c.1873A>T	XP_005257650.1:p.Ser625Cys
XM_005257593.5:c.1873A>T	XP_005257650.1:p.Ser625Cys
XM_011525129.1:c.1978A>T	XP_011523431.1:p.Ser660Cys
XM_011525129.2:c.1978A>T	XP_011523431.1:p.Ser660Cys
XM_011525130.1:c.2068A>T	XP_011523432.1:p.Ser690Cys