Canonical Allele Identifier: CA216108

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44250493G>A , CM000679.2:g.44250493G>A	GRCh38
NC_000017.10:g.42327861G>A , CM000679.1:g.42327861G>A	GRCh37
NC_000017.9:g.39683387G>A	NCBI36
NG_007498.1:g.22642C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.2701C>T MANE Select	NP_000333.1:p.Arg901Trp
ENST00000262418.12:c.2701C>T MANE Select	ENSP00000262418.6:p.Arg901Trp
NM_000342.3:c.2701C>T	NP_000333.1:p.Arg901Trp
ENST00000262418.10:c.2701C>T	ENSP00000262418.6:p.Arg901Trp
ENST00000399246.3:c.1603C>T	ENSP00000382190.3:p.Arg535Trp
XM_005257593.3:c.2506C>T	XP_005257650.1:p.Arg836Trp
XM_005257593.5:c.2506C>T	XP_005257650.1:p.Arg836Trp
XM_011525129.1:c.2611C>T	XP_011523431.1:p.Arg871Trp
XM_011525129.2:c.2611C>T	XP_011523431.1:p.Arg871Trp