Canonical Allele Identifier: CA361140119

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715522A>C (hg19) ; chr5:g.139379833A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379833A>C , CM000667.2:g.139379833A>C	GRCh38
NC_000005.9:g.138715522A>C , CM000667.1:g.138715522A>C	GRCh37
NC_000005.8:g.138743421A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.770T>G MANE Select	ENSP00000302701.4:p.Ile257Ser
ENST00000348729.7:c.770T>G	ENSP00000302701.4:p.Ile257Ser
ENST00000353963.7:c.782T>G	ENSP00000302851.5:p.Ile261Ser
ENST00000504513.1:c.164+123T>G
ENST00000506512.1:n.381T>G
NM_005847.4:c.770T>G	NP_005838.3:p.Ile257Ser
NM_152685.3:c.782T>G	NP_689898.2:p.Ile261Ser
XM_005272148.3:c.890T>G	XP_005272205.3:p.Ile297Ser
XM_005272149.3:c.878T>G	XP_005272206.3:p.Ile293Ser
XM_006714741.2:c.890T>G	XP_006714804.2:p.Ile297Ser
XM_011543765.1:c.890T>G	XP_011542067.1:p.Ile297Ser
XM_011543766.1:c.671T>G	XP_011542068.1:p.Ile224Ser
XM_011543767.1:c.575T>G	XP_011542069.1:p.Ile192Ser
XM_011543768.1:c.455T>G	XP_011542070.1:p.Ile152Ser
XM_011543769.1:c.65T>G	XP_011542071.1:p.Ile22Ser
XM_005272149.4:c.878T>G	XP_005272206.3:p.Ile293Ser
XM_011543765.2:c.890T>G	XP_011542067.1:p.Ile297Ser
NM_005847.5:c.770T>G MANE Select	NP_005838.3:p.Ile257Ser
NM_152685.4:c.782T>G	NP_689898.2:p.Ile261Ser