Canonical Allele Identifier: CA306123029

Gene: SLC5A5

Linked Data

• dbSNP Id: rs1014113396
• gnomAD v2: 19-18004853-G-A
• gnomAD v3: 19-17894044-G-A
• gnomAD v4: 19-17894044-G-A
• MyVariant Identifiers: chr19:g.18004853G>A (hg19) ; chr19:g.17894044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17894044G>A , CM000681.2:g.17894044G>A	GRCh38
NC_000019.9:g.18004853G>A , CM000681.1:g.18004853G>A	GRCh37
NC_000019.8:g.17865853G>A	NCBI36
NG_012930.1:g.27072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.*167G>A MANE Select	ENSP00000222248.2:n.*167G>A
ENST00000222248.3:c.*167G>A	ENSP00000222248.2:n.*167G>A
NM_000453.2:c.*167G>A	NP_000444.1:n.*167G>A
XM_011528192.1:c.*167G>A	XP_011526494.1:n.*167G>A
XM_011528193.1:c.*167G>A	XP_011526495.1:n.*167G>A
XM_011528194.1:c.*167G>A	XP_011526496.1:n.*167G>A
XM_011528192.2:c.*167G>A	XP_011526494.1:n.*167G>A
XM_011528193.3:c.*167G>A	XP_011526495.1:n.*167G>A
XM_011528194.3:c.*167G>A	XP_011526496.1:n.*167G>A
XM_017027158.1:c.*167G>A	XP_016882647.1:n.*167G>A
NM_000453.3:c.*167G>A MANE Select	NP_000444.1:n.*167G>A