Canonical Allele Identifier: CA399781807

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44253327C>G , CM000679.2:g.44253327C>G	GRCh38
NC_000017.10:g.42330695C>G , CM000679.1:g.42330695C>G	GRCh37
NC_000017.9:g.39686221C>G	NCBI36
NG_007498.1:g.19808G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.2102G>C MANE Select	NP_000333.1:p.Gly701Ala
ENST00000262418.12:c.2102G>C MANE Select	ENSP00000262418.6:p.Gly701Ala
NM_000342.3:c.2102G>C	NP_000333.1:p.Gly701Ala
ENST00000262418.10:c.2102G>C	ENSP00000262418.6:p.Gly701Ala
ENST00000399246.3:c.1004G>C	ENSP00000382190.3:p.Gly335Ala
XM_005257593.3:c.1907G>C	XP_005257650.1:p.Gly636Ala
XM_005257593.5:c.1907G>C	XP_005257650.1:p.Gly636Ala
XM_011525129.1:c.2012G>C	XP_011523431.1:p.Gly671Ala
XM_011525129.2:c.2012G>C	XP_011523431.1:p.Gly671Ala
XM_011525130.1:c.2102G>C	XP_011523432.1:p.Gly701Ala