Canonical Allele Identifier: CA2656284929

Gene: SLC5A1

Linked Data

• gnomAD v4: 22-32104928-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32104928A>C , CM000684.2:g.32104928A>C	GRCh38
NC_000022.10:g.32500915A>C , CM000684.1:g.32500915A>C	GRCh37
NC_000022.9:g.30830915A>C	NCBI36
NG_017045.1:g.66897A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266088.9:c.1771+37A>C MANE Select	ENSP00000266088.4:n.1771+37A>C
ENST00000266088.8:c.1771+37A>C	ENSP00000266088.4:n.1771+37A>C
ENST00000543737.2:c.1390+37A>C	ENSP00000444898.1:n.1390+37A>C
NM_000343.3:c.1771+37A>C	NP_000334.1:n.1771+37A>C
NM_001256314.1:c.1390+37A>C	NP_001243243.1:n.1390+37A>C
XR_938173.1:n.591+1910T>G
XR_938174.1:n.486+14927T>G
NM_000343.4:c.1771+37A>C MANE Select	NP_000334.1:n.1771+37A>C
NM_001256314.2:c.1390+37A>C	NP_001243243.1:n.1390+37A>C