Canonical Allele Identifier: CA514277430

Gene: SLC5A1

Linked Data

• MyVariant Identifiers: chr22:g.32500799C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104812C>G , CM000684.2:g.32104812C>G	GRCh38
NC_000022.10:g.32500799C>G , CM000684.1:g.32500799C>G	GRCh37
NC_000022.9:g.30830799C>G	NCBI36
NG_017045.1:g.66781C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1692C>G MANE Select	ENSP00000266088.4:p.Arg564=
ENST00000266088.8:c.1692C>G	ENSP00000266088.4:p.Arg564=
ENST00000543737.2:c.1311C>G	ENSP00000444898.1:p.Arg437=
NM_000343.3:c.1692C>G	NP_000334.1:p.Arg564=
NM_001256314.1:c.1311C>G	NP_001243243.1:p.Arg437=
XR_938173.1:n.591+2026G>C
XR_938174.1:n.486+15043G>C
NM_000343.4:c.1692C>G MANE Select	NP_000334.1:p.Arg564=
NM_001256314.2:c.1311C>G	NP_001243243.1:p.Arg437=