Canonical Allele Identifier: CA1261337367
Community Standard Title: NM_133478.3(SLC4A5):c.2060-600G=
Gene: SLC4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74242652C= , CM000664.2:g.74242652C= GRCh38
NC_000002.11:g.74469779C= , CM000664.1:g.74469779C= GRCh37
NC_000002.10:g.74323287C= NCBI36
NG_032663.1:g.105756G=

Transcript Alleles

HGVS Amino-acid Change
NM_133478.3:c.2060-600G= MANE Select NP_597812.1:n.2060-600G=
ENST00000394019.7:c.2060-600G= MANE Select ENSP00000377587.2:n.2060-600G=
NM_001386136.1:c.1712-600G= NP_001373065.1:n.1712-600G=
NM_021196.3:c.2060-600G= NP_067019.3:n.2060-600G=
NM_133478.2:c.2060-600G= NP_597812.1:n.2060-600G=
ENST00000346834.8:c.2060-600G= ENSP00000251768.7:n.2060-600G=
ENST00000358683.8:c.1868-600G= ENSP00000351513.4:n.1868-600G=
ENST00000377632.5:c.2060-600G= ENSP00000366859.1:n.2060-600G=
ENST00000377634.8:c.2060-600G= ENSP00000366861.4:n.2060-600G=
ENST00000394019.6:c.2060-600G= ENSP00000377587.2:n.2060-600G=
ENST00000423644.5:c.2060-600G= ENSP00000395804.2:n.2060-600G=
ENST00000425249.5:c.2060-600G= ENSP00000405678.1:n.2060-600G=
ENST00000425249.6:c.2060-600G= ENSP00000405678.2:n.2060-600G=
ENST00000451608.2:c.3224-600G= ENSP00000416453.2:n.3224-600G=
ENST00000483195.5:n.2865-600G=