Canonical Allele Identifier: CA8600202

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44255691G>C , CM000679.2:g.44255691G>C	GRCh38
NC_000017.10:g.42333059G>C , CM000679.1:g.42333059G>C	GRCh37
NC_000017.9:g.39688585G>C	NCBI36
NG_007498.1:g.17444C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.1782C>G MANE Select	NP_000333.1:p.Ser594Arg
ENST00000262418.12:c.1782C>G MANE Select	ENSP00000262418.6:p.Ser594Arg
NM_000342.3:c.1782C>G	NP_000333.1:p.Ser594Arg
ENST00000262418.10:c.1782C>G	ENSP00000262418.6:p.Ser594Arg
ENST00000399246.3:c.778-470C>G	ENSP00000382190.3:n.778-470C>G
XM_005257593.3:c.1587C>G	XP_005257650.1:p.Ser529Arg
XM_005257593.5:c.1587C>G	XP_005257650.1:p.Ser529Arg
XM_011525129.1:c.1782C>G	XP_011523431.1:p.Ser594Arg
XM_011525129.2:c.1782C>G	XP_011523431.1:p.Ser594Arg
XM_011525130.1:c.1782C>G	XP_011523432.1:p.Ser594Arg
XM_011525131.1:c.1782C>G	XP_011523433.1:p.Ser594Arg