Canonical Allele Identifier: CA10198200

Gene: SLC5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32091770C>G , CM000684.2:g.32091770C>G	GRCh38
NC_000022.10:g.32487757C>G , CM000684.1:g.32487757C>G	GRCh37
NC_000022.9:g.30817757C>G	NCBI36
NG_017045.1:g.53739C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000343.4:c.1280+8C>G MANE Select	NP_000334.1:n.1280+8C>G
ENST00000266088.9:c.1280+8C>G MANE Select	ENSP00000266088.4:n.1280+8C>G
NM_000343.3:c.1280+8C>G	NP_000334.1:n.1280+8C>G
NM_001256314.1:c.899+8C>G	NP_001243243.1:n.899+8C>G
NM_001256314.2:c.899+8C>G	NP_001243243.1:n.899+8C>G
ENST00000266088.8:c.1280+8C>G	ENSP00000266088.4:n.1280+8C>G
ENST00000477969.1:n.446+8C>G
ENST00000543737.2:c.899+8C>G	ENSP00000444898.1:n.899+8C>G
XM_011530331.1:c.1280+8C>G	XP_011528633.1:n.1280+8C>G
XR_938173.1:n.591+15068G>C
XR_938174.1:n.487-22967G>C