Canonical Allele Identifier: CA323385200

Gene: SLC5A1

Linked Data

• dbSNP Id: rs532222020
• gnomAD v4: 22-32104840-G-T
• MyVariant Identifiers: chr22:g.32500827G>T (hg19) ; chr22:g.32104840G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104840G>T , CM000684.2:g.32104840G>T	GRCh38
NC_000022.10:g.32500827G>T , CM000684.1:g.32500827G>T	GRCh37
NC_000022.9:g.30830827G>T	NCBI36
NG_017045.1:g.66809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1720G>T MANE Select	ENSP00000266088.4:p.Asp574Tyr
ENST00000266088.8:c.1720G>T	ENSP00000266088.4:p.Asp574Tyr
ENST00000543737.2:c.1339G>T	ENSP00000444898.1:p.Asp447Tyr
NM_000343.3:c.1720G>T	NP_000334.1:p.Asp574Tyr
NM_001256314.1:c.1339G>T	NP_001243243.1:p.Asp447Tyr
XR_938173.1:n.591+1998C>A
XR_938174.1:n.486+15015C>A
NM_000343.4:c.1720G>T MANE Select	NP_000334.1:p.Asp574Tyr
NM_001256314.2:c.1339G>T	NP_001243243.1:p.Asp447Tyr