Canonical Allele Identifier: CA399795178

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44260501C>A , CM000679.2:g.44260501C>A	GRCh38
NC_000017.10:g.42337869C>A , CM000679.1:g.42337869C>A	GRCh37
NC_000017.9:g.39693395C>A	NCBI36
NG_007498.1:g.12634G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.388G>T MANE Select	NP_000333.1:p.Gly130Ter
ENST00000262418.12:c.388G>T MANE Select	ENSP00000262418.6:p.Gly130Ter
NM_000342.3:c.388G>T	NP_000333.1:p.Gly130Ter
ENST00000262418.10:c.388G>T	ENSP00000262418.6:p.Gly130Ter
ENST00000399246.3:c.388G>T	ENSP00000382190.3:p.Gly130Ter
ENST00000471005.5:n.322G>T
ENST00000497360.5:n.527G>T
XM_005257593.3:c.193G>T	XP_005257650.1:p.Gly65Ter
XM_005257593.5:c.193G>T	XP_005257650.1:p.Gly65Ter
XM_011525129.1:c.388G>T	XP_011523431.1:p.Gly130Ter
XM_011525129.2:c.388G>T	XP_011523431.1:p.Gly130Ter
XM_011525130.1:c.388G>T	XP_011523432.1:p.Gly130Ter
XM_011525131.1:c.388G>T	XP_011523433.1:p.Gly130Ter