Canonical Allele Identifier: CA399781690

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44253270C>A , CM000679.2:g.44253270C>A	GRCh38
NC_000017.10:g.42330638C>A , CM000679.1:g.42330638C>A	GRCh37
NC_000017.9:g.39686164C>A	NCBI36
NG_007498.1:g.19865G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.2159G>T MANE Select	NP_000333.1:p.Gly720Val
ENST00000262418.12:c.2159G>T MANE Select	ENSP00000262418.6:p.Gly720Val
NM_000342.3:c.2159G>T	NP_000333.1:p.Gly720Val
ENST00000262418.10:c.2159G>T	ENSP00000262418.6:p.Gly720Val
ENST00000399246.3:c.1061G>T	ENSP00000382190.3:p.Gly354Val
XM_005257593.3:c.1964G>T	XP_005257650.1:p.Gly655Val
XM_005257593.5:c.1964G>T	XP_005257650.1:p.Gly655Val
XM_011525129.1:c.2069G>T	XP_011523431.1:p.Gly690Val
XM_011525129.2:c.2069G>T	XP_011523431.1:p.Gly690Val
XM_011525130.1:c.2159G>T	XP_011523432.1:p.Gly720Val