Canonical Allele Identifier: CA446794060

Gene: SLC23A1

Linked Data

• dbSNP Id: rs1169631975
• gnomAD v2: 5-138715509-G-A
• MyVariant Identifiers: chr5:g.138715509G>A (hg19) ; chr5:g.139379820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379820G>A , CM000667.2:g.139379820G>A	GRCh38
NC_000005.9:g.138715509G>A , CM000667.1:g.138715509G>A	GRCh37
NC_000005.8:g.138743408G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348729.8:c.783C>T MANE Select	ENSP00000302701.4:p.Ile261=
ENST00000348729.7:c.783C>T	ENSP00000302701.4:p.Ile261=
ENST00000353963.7:c.795C>T	ENSP00000302851.5:p.Ile265=
ENST00000504513.1:c.164+136C>T
ENST00000506512.1:n.394C>T
NM_005847.4:c.783C>T	NP_005838.3:p.Ile261=
NM_152685.3:c.795C>T	NP_689898.2:p.Ile265=
XM_005272148.3:c.903C>T	XP_005272205.3:p.Ile301=
XM_005272149.3:c.891C>T	XP_005272206.3:p.Ile297=
XM_006714741.2:c.903C>T	XP_006714804.2:p.Ile301=
XM_011543765.1:c.903C>T	XP_011542067.1:p.Ile301=
XM_011543766.1:c.684C>T	XP_011542068.1:p.Ile228=
XM_011543767.1:c.588C>T	XP_011542069.1:p.Ile196=
XM_011543768.1:c.468C>T	XP_011542070.1:p.Ile156=
XM_011543769.1:c.78C>T	XP_011542071.1:p.Ile26=
XM_005272149.4:c.891C>T	XP_005272206.3:p.Ile297=
XM_011543765.2:c.903C>T	XP_011542067.1:p.Ile301=
NM_005847.5:c.783C>T MANE Select	NP_005838.3:p.Ile261=
NM_152685.4:c.795C>T	NP_689898.2:p.Ile265=