Canonical Allele Identifier: CA1261334637
Community Standard Title: NM_133478.3(SLC4A5):c.2320-1225G=
Gene: SLC4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74236439C= , CM000664.2:g.74236439C= GRCh38
NC_000002.11:g.74463566C= , CM000664.1:g.74463566C= GRCh37
NC_000002.10:g.74317074C= NCBI36
NG_032663.1:g.111969G=

Transcript Alleles

HGVS Amino-acid Change
NM_133478.3:c.2320-1225G= MANE Select NP_597812.1:n.2320-1225G=
ENST00000394019.7:c.2320-1225G= MANE Select ENSP00000377587.2:n.2320-1225G=
NM_001386136.1:c.1972-1225G= NP_001373065.1:n.1972-1225G=
NM_021196.3:c.2320-1225G= NP_067019.3:n.2320-1225G=
NM_133478.2:c.2320-1225G= NP_597812.1:n.2320-1225G=
ENST00000346834.8:c.2320-1225G= ENSP00000251768.7:n.2320-1225G=
ENST00000358683.8:c.2128-2876G= ENSP00000351513.4:n.2128-2876G=
ENST00000377632.5:c.2320-1225G= ENSP00000366859.1:n.2320-1225G=
ENST00000377634.8:c.2320-1225G= ENSP00000366861.4:n.2320-1225G=
ENST00000394019.6:c.2320-1225G= ENSP00000377587.2:n.2320-1225G=
ENST00000423644.5:c.2320-1225G= ENSP00000395804.2:n.2320-1225G=
ENST00000425249.5:c.2320-2876G= ENSP00000405678.1:n.2320-2876G=
ENST00000425249.6:c.2320-2876G= ENSP00000405678.2:n.2320-2876G=
ENST00000451608.2:c.3484-1225G= ENSP00000416453.2:n.3484-1225G=
ENST00000483195.5:n.3125-1225G=