Canonical Allele Identifier: CA2675524478

Gene: SLC23A1

Linked Data

• gnomAD v4: 5-139379922-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379922T>C , CM000667.2:g.139379922T>C	GRCh38
NC_000005.9:g.138715611T>C , CM000667.1:g.138715611T>C	GRCh37
NC_000005.8:g.138743510T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.768+34A>G MANE Select	ENSP00000302701.4:n.768+34A>G
ENST00000348729.7:c.768+34A>G	ENSP00000302701.4:n.768+34A>G
ENST00000353963.7:c.780+34A>G	ENSP00000302851.5:n.780+34A>G
ENST00000504513.1:c.164+34A>G
ENST00000506512.1:n.292A>G
NM_005847.4:c.768+34A>G	NP_005838.3:n.768+34A>G
NM_152685.3:c.780+34A>G	NP_689898.2:n.780+34A>G
XM_005272148.3:c.888+34A>G	XP_005272205.3:n.888+34A>G
XM_005272149.3:c.876+34A>G	XP_005272206.3:n.876+34A>G
XM_006714741.2:c.888+34A>G	XP_006714804.2:n.888+34A>G
XM_011543765.1:c.888+34A>G	XP_011542067.1:n.888+34A>G
XM_011543766.1:c.669+34A>G	XP_011542068.1:n.669+34A>G
XM_011543767.1:c.574-88A>G	XP_011542069.1:n.574-88A>G
XM_011543768.1:c.453+34A>G	XP_011542070.1:n.453+34A>G
XM_011543769.1:c.64-88A>G	XP_011542071.1:n.64-88A>G
XM_005272149.4:c.876+34A>G	XP_005272206.3:n.876+34A>G
XM_011543765.2:c.888+34A>G	XP_011542067.1:n.888+34A>G
NM_005847.5:c.768+34A>G MANE Select	NP_005838.3:n.768+34A>G
NM_152685.4:c.780+34A>G	NP_689898.2:n.780+34A>G