Canonical Allele Identifier: CA3434025

Gene: SLC23A1

Linked Data

• dbSNP Id: rs765751908
• ExAC: 5:138715384 A / T
• gnomAD v2: 5-138715384-A-T
• gnomAD v4: 5-139379695-A-T
• MyVariant Identifiers: chr5:g.138715384A>T (hg19) ; chr5:g.139379695A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379695A>T , CM000667.2:g.139379695A>T	GRCh38
NC_000005.9:g.138715384A>T , CM000667.1:g.138715384A>T	GRCh37
NC_000005.8:g.138743283A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.908T>A MANE Select	ENSP00000302701.4:p.Ile303Asn
ENST00000348729.7:c.908T>A	ENSP00000302701.4:p.Ile303Asn
ENST00000353963.7:c.920T>A	ENSP00000302851.5:p.Ile307Asn
ENST00000504513.1:c.164+261T>A
ENST00000506512.1:n.519T>A
NM_005847.4:c.908T>A	NP_005838.3:p.Ile303Asn
NM_152685.3:c.920T>A	NP_689898.2:p.Ile307Asn
XM_005272148.3:c.1028T>A	XP_005272205.3:p.Ile343Asn
XM_005272149.3:c.1016T>A	XP_005272206.3:p.Ile339Asn
XM_006714741.2:c.1028T>A	XP_006714804.2:p.Ile343Asn
XM_011543765.1:c.1028T>A	XP_011542067.1:p.Ile343Asn
XM_011543766.1:c.809T>A	XP_011542068.1:p.Ile270Asn
XM_011543767.1:c.713T>A	XP_011542069.1:p.Ile238Asn
XM_011543768.1:c.593T>A	XP_011542070.1:p.Ile198Asn
XM_011543769.1:c.203T>A	XP_011542071.1:p.Ile68Asn
XM_005272149.4:c.1016T>A	XP_005272206.3:p.Ile339Asn
XM_011543765.2:c.1028T>A	XP_011542067.1:p.Ile343Asn
NM_005847.5:c.908T>A MANE Select	NP_005838.3:p.Ile303Asn
NM_152685.4:c.920T>A	NP_689898.2:p.Ile307Asn