Canonical Allele Identifier: CA446794066

Gene: SLC23A1

Linked Data

• gnomAD v4: 5-139379823-G-A
• MyVariant Identifiers: chr5:g.138715512G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379823G>A , CM000667.2:g.139379823G>A	GRCh38
NC_000005.9:g.138715512G>A , CM000667.1:g.138715512G>A	GRCh37
NC_000005.8:g.138743411G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348729.8:c.780C>T MANE Select	ENSP00000302701.4:p.Ala260=
ENST00000348729.7:c.780C>T	ENSP00000302701.4:p.Ala260=
ENST00000353963.7:c.792C>T	ENSP00000302851.5:p.Ala264=
ENST00000504513.1:c.164+133C>T
ENST00000506512.1:n.391C>T
NM_005847.4:c.780C>T	NP_005838.3:p.Ala260=
NM_152685.3:c.792C>T	NP_689898.2:p.Ala264=
XM_005272148.3:c.900C>T	XP_005272205.3:p.Ala300=
XM_005272149.3:c.888C>T	XP_005272206.3:p.Ala296=
XM_006714741.2:c.900C>T	XP_006714804.2:p.Ala300=
XM_011543765.1:c.900C>T	XP_011542067.1:p.Ala300=
XM_011543766.1:c.681C>T	XP_011542068.1:p.Ala227=
XM_011543767.1:c.585C>T	XP_011542069.1:p.Ala195=
XM_011543768.1:c.465C>T	XP_011542070.1:p.Ala155=
XM_011543769.1:c.75C>T	XP_011542071.1:p.Ala25=
XM_005272149.4:c.888C>T	XP_005272206.3:p.Ala296=
XM_011543765.2:c.900C>T	XP_011542067.1:p.Ala300=
NM_005847.5:c.780C>T MANE Select	NP_005838.3:p.Ala260=
NM_152685.4:c.792C>T	NP_689898.2:p.Ala264=