Canonical Allele Identifier: CA411314800

Gene: SLC5A1

Linked Data

• dbSNP Id: rs1207047215
• gnomAD v4: 22-32104859-T-A
• MyVariant Identifiers: chr22:g.32500846T>A (hg19) ; chr22:g.32104859T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104859T>A , CM000684.2:g.32104859T>A	GRCh38
NC_000022.10:g.32500846T>A , CM000684.1:g.32500846T>A	GRCh37
NC_000022.9:g.30830846T>A	NCBI36
NG_017045.1:g.66828T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1739T>A MANE Select	ENSP00000266088.4:p.Ile580Asn
ENST00000266088.8:c.1739T>A	ENSP00000266088.4:p.Ile580Asn
ENST00000543737.2:c.1358T>A	ENSP00000444898.1:p.Ile453Asn
NM_000343.3:c.1739T>A	NP_000334.1:p.Ile580Asn
NM_001256314.1:c.1358T>A	NP_001243243.1:p.Ile453Asn
XR_938173.1:n.591+1979A>T
XR_938174.1:n.486+14996A>T
NM_000343.4:c.1739T>A MANE Select	NP_000334.1:p.Ile580Asn
NM_001256314.2:c.1358T>A	NP_001243243.1:p.Ile453Asn