Canonical Allele Identifier: CA399781304

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44251588C>A , CM000679.2:g.44251588C>A	GRCh38
NC_000017.10:g.42328956C>A , CM000679.1:g.42328956C>A	GRCh37
NC_000017.9:g.39684482C>A	NCBI36
NG_007498.1:g.21547G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2312G>T MANE Select	ENSP00000262418.6:p.Gly771Val
ENST00000262418.10:c.2312G>T	ENSP00000262418.6:p.Gly771Val
ENST00000399246.3:c.1214G>T	ENSP00000382190.3:p.Gly405Val
NM_000342.3:c.2312G>T	NP_000333.1:p.Gly771Val
XM_005257593.3:c.2117G>T	XP_005257650.1:p.Gly706Val
XM_011525129.1:c.2222G>T	XP_011523431.1:p.Gly741Val
XM_011525130.1:c.*22G>T	XP_011523432.1:n.*22G>T
XM_005257593.5:c.2117G>T	XP_005257650.1:p.Gly706Val
XM_011525129.2:c.2222G>T	XP_011523431.1:p.Gly741Val
NM_000342.4:c.2312G>T MANE Select	NP_000333.1:p.Gly771Val