Canonical Allele Identifier: CA8600484

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44259320G>A , CM000679.2:g.44259320G>A	GRCh38
NC_000017.10:g.42336688G>A , CM000679.1:g.42336688G>A	GRCh37
NC_000017.9:g.39692214G>A	NCBI36
NG_007498.1:g.13815C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.719C>T MANE Select	NP_000333.1:p.Pro240Leu
ENST00000262418.12:c.719C>T MANE Select	ENSP00000262418.6:p.Pro240Leu
NM_000342.3:c.719C>T	NP_000333.1:p.Pro240Leu
ENST00000262418.10:c.719C>T	ENSP00000262418.6:p.Pro240Leu
ENST00000399246.3:c.719C>T	ENSP00000382190.3:p.Pro240Leu
ENST00000497360.5:n.858C>T
XM_005257593.3:c.524C>T	XP_005257650.1:p.Pro175Leu
XM_005257593.5:c.524C>T	XP_005257650.1:p.Pro175Leu
XM_011525129.1:c.719C>T	XP_011523431.1:p.Pro240Leu
XM_011525129.2:c.719C>T	XP_011523431.1:p.Pro240Leu
XM_011525130.1:c.719C>T	XP_011523432.1:p.Pro240Leu
XM_011525131.1:c.719C>T	XP_011523433.1:p.Pro240Leu