Canonical Allele Identifier: CA14979696
Gene: SLC5A4 HGNC NCBI

Linked Data

dbSNP Id: rs5998432
gnomAD v2: 22-32745916-C-T
gnomAD v3: 22-32349929-C-T
gnomAD v4: 22-32349929-C-T
MyVariant Identifiers: chr22:g.32745916C>T (hg19) chr22:g.32349929C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32349929C>T , CM000684.2:g.32349929C>T GRCh38
NC_000022.10:g.32745916C>T , CM000684.1:g.32745916C>T GRCh37
NC_000022.9:g.31075916C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_006724308.2:c.-4+2909G>A XP_006724371.1:n.-4+2909G>A
XM_011530342.1:c.-122+2909G>A XP_011528644.1:n.-122+2909G>A
XM_011530343.1:c.-4+2948G>A XP_011528645.1:n.-4+2948G>A
XM_006724308.3:c.-4+2909G>A XP_006724371.1:n.-4+2909G>A
XM_011530342.2:c.-122+2909G>A XP_011528644.1:n.-122+2909G>A
XM_011530343.2:c.-4+2948G>A XP_011528645.1:n.-4+2948G>A
XM_017028920.1:c.107+2948G>A XP_016884409.1:n.107+2948G>A
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