Canonical Allele Identifier: CA2401804196
Gene: SLC5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104774C= , CM000684.2:g.32104774C= GRCh38
NC_000022.10:g.32500761C= , CM000684.1:g.32500761C= GRCh37
NC_000022.9:g.30830761C= NCBI36
NG_017045.1:g.66743C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1666-12C= MANE Select ENSP00000266088.4:n.1666-12C=
ENST00000266088.8:c.1666-12C= ENSP00000266088.4:n.1666-12C=
ENST00000543737.2:c.1285-12C= ENSP00000444898.1:n.1285-12C=
NM_000343.3:c.1666-12C= NP_000334.1:n.1666-12C=
NM_001256314.1:c.1285-12C= NP_001243243.1:n.1285-12C=
XR_938173.1:n.591+2064G=
XR_938174.1:n.486+15081G=
NM_000343.4:c.1666-12C= MANE Select NP_000334.1:n.1666-12C=
NM_001256314.2:c.1285-12C= NP_001243243.1:n.1285-12C=
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