Canonical Allele Identifier: CA514277467

Gene: SLC5A1

Linked Data

• MyVariant Identifiers: chr22:g.32500877A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104890A>C , CM000684.2:g.32104890A>C	GRCh38
NC_000022.10:g.32500877A>C , CM000684.1:g.32500877A>C	GRCh37
NC_000022.9:g.30830877A>C	NCBI36
NG_017045.1:g.66859A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1770A>C MANE Select	ENSP00000266088.4:p.Ile590=
ENST00000266088.8:c.1770A>C	ENSP00000266088.4:p.Ile590=
ENST00000543737.2:c.1389A>C	ENSP00000444898.1:p.Ile463=
NM_000343.3:c.1770A>C	NP_000334.1:p.Ile590=
NM_001256314.1:c.1389A>C	NP_001243243.1:p.Ile463=
XR_938173.1:n.591+1948T>G
XR_938174.1:n.486+14965T>G
NM_000343.4:c.1770A>C MANE Select	NP_000334.1:p.Ile590=
NM_001256314.2:c.1389A>C	NP_001243243.1:p.Ile463=