Canonical Allele Identifier: CA10198151

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32086326T>C , CM000684.2:g.32086326T>C	GRCh38
NC_000022.10:g.32482313T>C , CM000684.1:g.32482313T>C	GRCh37
NC_000022.9:g.30812313T>C	NCBI36
NG_017045.1:g.48295T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.1128T>C MANE Select	NP_000334.1:p.Asn376=
ENST00000266088.9:c.1128T>C MANE Select	ENSP00000266088.4:p.Asn376=
NM_000343.3:c.1128T>C	NP_000334.1:p.Asn376=
NM_001256314.1:c.747T>C	NP_001243243.1:p.Asn249=
NM_001256314.2:c.747T>C	NP_001243243.1:p.Asn249=
ENST00000266088.8:c.1128T>C	ENSP00000266088.4:p.Asn376=
ENST00000477969.1:n.294T>C
ENST00000486394.1:n.568T>C
ENST00000543737.2:c.747T>C	ENSP00000444898.1:p.Asn249=
XM_011530331.1:c.1128T>C	XP_011528633.1:p.Asn376=
XR_938173.1:n.592-17523A>G
XR_938174.1:n.487-17523A>G