Canonical Allele Identifier: CA399784056

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44255693T>G , CM000679.2:g.44255693T>G	GRCh38
NC_000017.10:g.42333061T>G , CM000679.1:g.42333061T>G	GRCh37
NC_000017.9:g.39688587T>G	NCBI36
NG_007498.1:g.17442A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.1780A>C MANE Select	NP_000333.1:p.Ser594Arg
ENST00000262418.12:c.1780A>C MANE Select	ENSP00000262418.6:p.Ser594Arg
NM_000342.3:c.1780A>C	NP_000333.1:p.Ser594Arg
ENST00000262418.10:c.1780A>C	ENSP00000262418.6:p.Ser594Arg
ENST00000399246.3:c.778-472A>C	ENSP00000382190.3:n.778-472A>C
XM_005257593.3:c.1585A>C	XP_005257650.1:p.Ser529Arg
XM_005257593.5:c.1585A>C	XP_005257650.1:p.Ser529Arg
XM_011525129.1:c.1780A>C	XP_011523431.1:p.Ser594Arg
XM_011525129.2:c.1780A>C	XP_011523431.1:p.Ser594Arg
XM_011525130.1:c.1780A>C	XP_011523432.1:p.Ser594Arg
XM_011525131.1:c.1780A>C	XP_011523433.1:p.Ser594Arg