Canonical Allele Identifier: CA1082118454

Gene: SLC23A1

Linked Data

• dbSNP Id: rs1758153441
• gnomAD v3: 5-139379860-T-C
• gnomAD v4: 5-139379860-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379860T>C , CM000667.2:g.139379860T>C	GRCh38
NC_000005.9:g.138715549T>C , CM000667.1:g.138715549T>C	GRCh37
NC_000005.8:g.138743448T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.769-26A>G MANE Select	ENSP00000302701.4:n.769-26A>G
ENST00000348729.7:c.769-26A>G	ENSP00000302701.4:n.769-26A>G
ENST00000353963.7:c.781-26A>G	ENSP00000302851.5:n.781-26A>G
ENST00000504513.1:c.164+96A>G
ENST00000506512.1:n.354A>G
NM_005847.4:c.769-26A>G	NP_005838.3:n.769-26A>G
NM_152685.3:c.781-26A>G	NP_689898.2:n.781-26A>G
XM_005272148.3:c.889-26A>G	XP_005272205.3:n.889-26A>G
XM_005272149.3:c.877-26A>G	XP_005272206.3:n.877-26A>G
XM_006714741.2:c.889-26A>G	XP_006714804.2:n.889-26A>G
XM_011543765.1:c.889-26A>G	XP_011542067.1:n.889-26A>G
XM_011543766.1:c.670-26A>G	XP_011542068.1:n.670-26A>G
XM_011543767.1:c.574-26A>G	XP_011542069.1:n.574-26A>G
XM_011543768.1:c.454-26A>G	XP_011542070.1:n.454-26A>G
XM_011543769.1:c.64-26A>G	XP_011542071.1:n.64-26A>G
XM_005272149.4:c.877-26A>G	XP_005272206.3:n.877-26A>G
XM_011543765.2:c.889-26A>G	XP_011542067.1:n.889-26A>G
NM_005847.5:c.769-26A>G MANE Select	NP_005838.3:n.769-26A>G
NM_152685.4:c.781-26A>G	NP_689898.2:n.781-26A>G