Canonical Allele Identifier: CA1261332114
Gene: SLC4A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74230591A>T , CM000664.2:g.74230591A>T GRCh38
NC_000002.11:g.74457718A>T , CM000664.1:g.74457718A>T GRCh37
NC_000002.10:g.74311226A>T NCBI36
NG_032663.1:g.117817T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394019.7:c.2847+645T>A MANE Select ENSP00000377587.2:n.2847+645T>A
ENST00000425249.6:c.2554+645T>A ENSP00000405678.2:n.2554+645T>A
ENST00000346834.8:c.2847+645T>A ENSP00000251768.7:n.2847+645T>A
ENST00000358683.8:c.2541+645T>A ENSP00000351513.4:n.2541+645T>A
ENST00000377632.5:c.2847+645T>A ENSP00000366859.1:n.2847+645T>A
ENST00000377634.8:c.2847+645T>A ENSP00000366861.4:n.2847+645T>A
ENST00000394019.6:c.2847+645T>A ENSP00000377587.2:n.2847+645T>A
ENST00000423644.5:c.2847+645T>A ENSP00000395804.2:n.2847+645T>A
ENST00000425249.5:c.2554+645T>A ENSP00000405678.1:n.2554+645T>A
ENST00000451608.2:c.4011+645T>A ENSP00000416453.2:n.4011+645T>A
ENST00000483195.5:n.3473+645T>A
NM_021196.3:c.2847+645T>A NP_067019.3:n.2847+645T>A
NM_133478.2:c.2847+645T>A NP_597812.1:n.2847+645T>A
NM_133478.3:c.2847+645T>A MANE Select NP_597812.1:n.2847+645T>A
NM_001386136.1:c.2499+645T>A NP_001373065.1:n.2499+645T>A