Canonical Allele Identifier: CA10651656

Gene: SLC5A5

Linked Data

• ClinVar Variation Id: 328558
• ClinVar RCV Id: RCV000394573
• dbSNP Id: rs148592461
• gnomAD v2: 19-18004963-T-C
• gnomAD v3: 19-17894154-T-C
• gnomAD v4: 19-17894154-T-C
• MyVariant Identifiers: chr19:g.18004963T>C (hg19) ; chr19:g.17894154T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17894154T>C , CM000681.2:g.17894154T>C	GRCh38
NC_000019.9:g.18004963T>C , CM000681.1:g.18004963T>C	GRCh37
NC_000019.8:g.17865963T>C	NCBI36
NG_012930.1:g.27182T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222248.4:c.*277T>C MANE Select	ENSP00000222248.2:n.*277T>C
ENST00000222248.3:c.*277T>C	ENSP00000222248.2:n.*277T>C
NM_000453.2:c.*277T>C	NP_000444.1:n.*277T>C
XM_011528192.1:c.*277T>C	XP_011526494.1:n.*277T>C
XM_011528193.1:c.*277T>C	XP_011526495.1:n.*277T>C
XM_011528194.1:c.*277T>C	XP_011526496.1:n.*277T>C
XM_011528192.2:c.*277T>C	XP_011526494.1:n.*277T>C
XM_011528193.3:c.*277T>C	XP_011526495.1:n.*277T>C
XM_011528194.3:c.*277T>C	XP_011526496.1:n.*277T>C
XM_017027158.1:c.*277T>C	XP_016882647.1:n.*277T>C
NM_000453.3:c.*277T>C MANE Select	NP_000444.1:n.*277T>C