Canonical Allele Identifier: CA10198222

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32099302T>C , CM000684.2:g.32099302T>C	GRCh38
NC_000022.10:g.32495289T>C , CM000684.1:g.32495289T>C	GRCh37
NC_000022.9:g.30825289T>C	NCBI36
NG_017045.1:g.61271T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.1400T>C MANE Select	NP_000334.1:p.Ile467Thr
ENST00000266088.9:c.1400T>C MANE Select	ENSP00000266088.4:p.Ile467Thr
NM_000343.3:c.1400T>C	NP_000334.1:p.Ile467Thr
NM_001256314.1:c.1019T>C	NP_001243243.1:p.Ile340Thr
NM_001256314.2:c.1019T>C	NP_001243243.1:p.Ile340Thr
ENST00000266088.8:c.1400T>C	ENSP00000266088.4:p.Ile467Thr
ENST00000477969.1:n.566T>C
ENST00000543737.2:c.1019T>C	ENSP00000444898.1:p.Ile340Thr
XM_011530331.1:c.1281-2720T>C	XP_011528633.1:n.1281-2720T>C
XR_938173.1:n.591+7536A>G
XR_938174.1:n.486+20553A>G