Canonical Allele Identifier: CA2583492508

Gene: SLC5A5

Linked Data

• dbSNP Id: rs2147759304
• gnomAD v4: 19-17893918-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17893918C>T , CM000681.2:g.17893918C>T	GRCh38
NC_000019.9:g.18004727C>T , CM000681.1:g.18004727C>T	GRCh37
NC_000019.8:g.17865727C>T	NCBI36
NG_012930.1:g.26946C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222248.4:c.*41C>T MANE Select	ENSP00000222248.2:n.*41C>T
ENST00000222248.3:c.*41C>T	ENSP00000222248.2:n.*41C>T
NM_000453.2:c.*41C>T	NP_000444.1:n.*41C>T
XM_011528192.1:c.*41C>T	XP_011526494.1:n.*41C>T
XM_011528193.1:c.*41C>T	XP_011526495.1:n.*41C>T
XM_011528194.1:c.*41C>T	XP_011526496.1:n.*41C>T
XM_011528192.2:c.*41C>T	XP_011526494.1:n.*41C>T
XM_011528193.3:c.*41C>T	XP_011526495.1:n.*41C>T
XM_011528194.3:c.*41C>T	XP_011526496.1:n.*41C>T
XM_017027158.1:c.*41C>T	XP_016882647.1:n.*41C>T
NM_000453.3:c.*41C>T MANE Select	NP_000444.1:n.*41C>T