Canonical Allele Identifier: CA2583492520

Gene: SLC5A5

Linked Data

• gnomAD v4: 19-17893943-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17893943C>G , CM000681.2:g.17893943C>G	GRCh38
NC_000019.9:g.18004752C>G , CM000681.1:g.18004752C>G	GRCh37
NC_000019.8:g.17865752C>G	NCBI36
NG_012930.1:g.26971C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222248.4:c.*66C>G MANE Select	ENSP00000222248.2:n.*66C>G
ENST00000222248.3:c.*66C>G	ENSP00000222248.2:n.*66C>G
NM_000453.2:c.*66C>G	NP_000444.1:n.*66C>G
XM_011528192.1:c.*66C>G	XP_011526494.1:n.*66C>G
XM_011528193.1:c.*66C>G	XP_011526495.1:n.*66C>G
XM_011528194.1:c.*66C>G	XP_011526496.1:n.*66C>G
XM_011528192.2:c.*66C>G	XP_011526494.1:n.*66C>G
XM_011528193.3:c.*66C>G	XP_011526495.1:n.*66C>G
XM_011528194.3:c.*66C>G	XP_011526496.1:n.*66C>G
XM_017027158.1:c.*66C>G	XP_016882647.1:n.*66C>G
NM_000453.3:c.*66C>G MANE Select	NP_000444.1:n.*66C>G