Canonical Allele Identifier: CA2632887237

Gene: SLC5A2

Linked Data

• gnomAD v4: 16-31489099-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489099C>A , CM000678.2:g.31489099C>A	GRCh38
NC_000016.9:g.31500420C>A , CM000678.1:g.31500420C>A	GRCh37
NC_000016.8:g.31407921C>A	NCBI36
NG_012892.1:g.10982C>A
NG_033149.1:g.24321G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1450-24C>A MANE Select	ENSP00000327943.3:n.1450-24C>A
ENST00000330498.3:c.1450-24C>A	ENSP00000327943.3:n.1450-24C>A
ENST00000419665.6:c.1130-24C>A	ENSP00000410601.2:n.1130-24C>A
ENST00000568188.1:n.821-24C>A
ENST00000568891.1:n.282-24C>A
NM_003041.3:c.1450-24C>A	NP_003032.1:n.1450-24C>A
NR_130783.1:n.1149-24C>A
XM_006721072.2:c.1471-24C>A	XP_006721135.2:n.1471-24C>A
XM_006721073.2:c.1302-24C>A	XP_006721136.2:n.1302-24C>A
XM_006721072.4:c.1471-24C>A	XP_006721135.2:n.1471-24C>A
XM_024450402.1:c.1151-24C>A	XP_024306170.1:n.1151-24C>A
NM_003041.4:c.1450-24C>A MANE Select	NP_003032.1:n.1450-24C>A
NR_130783.2:n.1144-24C>A