Canonical Allele Identifier: CA15153275
Gene: SLC4A5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74235514T>G , CM000664.2:g.74235514T>G GRCh38
NC_000002.11:g.74462641T>G , CM000664.1:g.74462641T>G GRCh37
NC_000002.10:g.74316149T>G NCBI36
NG_032663.1:g.112894A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394019.7:c.2320-300A>C MANE Select ENSP00000377587.2:n.2320-300A>C
ENST00000425249.6:c.2320-1951A>C ENSP00000405678.2:n.2320-1951A>C
ENST00000346834.8:c.2320-300A>C ENSP00000251768.7:n.2320-300A>C
ENST00000358683.8:c.2128-1951A>C ENSP00000351513.4:n.2128-1951A>C
ENST00000377632.5:c.2320-300A>C ENSP00000366859.1:n.2320-300A>C
ENST00000377634.8:c.2320-300A>C ENSP00000366861.4:n.2320-300A>C
ENST00000394019.6:c.2320-300A>C ENSP00000377587.2:n.2320-300A>C
ENST00000423644.5:c.2320-300A>C ENSP00000395804.2:n.2320-300A>C
ENST00000425249.5:c.2320-1951A>C ENSP00000405678.1:n.2320-1951A>C
ENST00000451608.2:c.3484-300A>C ENSP00000416453.2:n.3484-300A>C
ENST00000483195.5:n.3125-300A>C
NM_021196.3:c.2320-300A>C NP_067019.3:n.2320-300A>C
NM_133478.2:c.2320-300A>C NP_597812.1:n.2320-300A>C
NM_133478.3:c.2320-300A>C MANE Select NP_597812.1:n.2320-300A>C
NM_001386136.1:c.1972-300A>C NP_001373065.1:n.1972-300A>C
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