Canonical Allele Identifier: CA10198303

Gene: SLC5A1

Linked Data

• dbSNP Id: rs749550023
• ExAC: 22:32500829 T / C
• gnomAD v2: 22-32500829-T-C
• MyVariant Identifiers: chr22:g.32500829T>C (hg19) ; chr22:g.32104842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104842T>C , CM000684.2:g.32104842T>C	GRCh38
NC_000022.10:g.32500829T>C , CM000684.1:g.32500829T>C	GRCh37
NC_000022.9:g.30830829T>C	NCBI36
NG_017045.1:g.66811T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1722T>C MANE Select	ENSP00000266088.4:p.Asp574=
ENST00000266088.8:c.1722T>C	ENSP00000266088.4:p.Asp574=
ENST00000543737.2:c.1341T>C	ENSP00000444898.1:p.Asp447=
NM_000343.3:c.1722T>C	NP_000334.1:p.Asp574=
NM_001256314.1:c.1341T>C	NP_001243243.1:p.Asp447=
XR_938173.1:n.591+1996A>G
XR_938174.1:n.486+15013A>G
NM_000343.4:c.1722T>C MANE Select	NP_000334.1:p.Asp574=
NM_001256314.2:c.1341T>C	NP_001243243.1:p.Asp447=