Canonical Allele Identifier: CA361140074

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715513G>A (hg19) ; chr5:g.139379824G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379824G>A , CM000667.2:g.139379824G>A	GRCh38
NC_000005.9:g.138715513G>A , CM000667.1:g.138715513G>A	GRCh37
NC_000005.8:g.138743412G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348729.8:c.779C>T MANE Select	ENSP00000302701.4:p.Ala260Val
ENST00000348729.7:c.779C>T	ENSP00000302701.4:p.Ala260Val
ENST00000353963.7:c.791C>T	ENSP00000302851.5:p.Ala264Val
ENST00000504513.1:c.164+132C>T
ENST00000506512.1:n.390C>T
NM_005847.4:c.779C>T	NP_005838.3:p.Ala260Val
NM_152685.3:c.791C>T	NP_689898.2:p.Ala264Val
XM_005272148.3:c.899C>T	XP_005272205.3:p.Ala300Val
XM_005272149.3:c.887C>T	XP_005272206.3:p.Ala296Val
XM_006714741.2:c.899C>T	XP_006714804.2:p.Ala300Val
XM_011543765.1:c.899C>T	XP_011542067.1:p.Ala300Val
XM_011543766.1:c.680C>T	XP_011542068.1:p.Ala227Val
XM_011543767.1:c.584C>T	XP_011542069.1:p.Ala195Val
XM_011543768.1:c.464C>T	XP_011542070.1:p.Ala155Val
XM_011543769.1:c.74C>T	XP_011542071.1:p.Ala25Val
XM_005272149.4:c.887C>T	XP_005272206.3:p.Ala296Val
XM_011543765.2:c.899C>T	XP_011542067.1:p.Ala300Val
NM_005847.5:c.779C>T MANE Select	NP_005838.3:p.Ala260Val
NM_152685.4:c.791C>T	NP_689898.2:p.Ala264Val