Canonical Allele Identifier: CA2261308306
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44254657G= , CM000679.2:g.44254657G= GRCh38
NC_000017.10:g.42332025G= , CM000679.1:g.42332025G= GRCh37
NC_000017.9:g.39687551G= NCBI36
NG_007498.1:g.18478C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262418.12:c.1896C= MANE Select ENSP00000262418.6:p.Leu632=
ENST00000262418.10:c.1896C= ENSP00000262418.6:p.Leu632=
ENST00000399246.3:c.798C= ENSP00000382190.3:p.Leu266=
NM_000342.3:c.1896C= NP_000333.1:p.Leu632=
XM_005257593.3:c.1701C= XP_005257650.1:p.Leu567=
XM_011525129.1:c.1806C= XP_011523431.1:p.Leu602=
XM_011525130.1:c.1896C= XP_011523432.1:p.Leu632=
XM_011525131.1:c.1896C= XP_011523433.1:p.Leu632=
XM_005257593.5:c.1701C= XP_005257650.1:p.Leu567=
XM_011525129.2:c.1806C= XP_011523431.1:p.Leu602=
NM_000342.4:c.1896C= MANE Select NP_000333.1:p.Leu632=