Canonical Allele Identifier: CA2401804250
Gene: SLC5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32104859T= , CM000684.2:g.32104859T= GRCh38
NC_000022.10:g.32500846T= , CM000684.1:g.32500846T= GRCh37
NC_000022.9:g.30830846T= NCBI36
NG_017045.1:g.66828T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000266088.9:c.1739T= MANE Select ENSP00000266088.4:p.Ile580=
ENST00000266088.8:c.1739T= ENSP00000266088.4:p.Ile580=
ENST00000543737.2:c.1358T= ENSP00000444898.1:p.Ile453=
NM_000343.3:c.1739T= NP_000334.1:p.Ile580=
NM_001256314.1:c.1358T= NP_001243243.1:p.Ile453=
XR_938173.1:n.591+1979A=
XR_938174.1:n.486+14996A=
NM_000343.4:c.1739T= MANE Select NP_000334.1:p.Ile580=
NM_001256314.2:c.1358T= NP_001243243.1:p.Ile453=