Canonical Allele Identifier: CA361139434

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715378A>T (hg19) ; chr5:g.139379689A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379689A>T , CM000667.2:g.139379689A>T	GRCh38
NC_000005.9:g.138715378A>T , CM000667.1:g.138715378A>T	GRCh37
NC_000005.8:g.138743277A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.914T>A MANE Select	ENSP00000302701.4:p.Ile305Asn
ENST00000348729.7:c.914T>A	ENSP00000302701.4:p.Ile305Asn
ENST00000353963.7:c.926T>A	ENSP00000302851.5:p.Ile309Asn
ENST00000504513.1:c.164+267T>A
ENST00000506512.1:n.525T>A
NM_005847.4:c.914T>A	NP_005838.3:p.Ile305Asn
NM_152685.3:c.926T>A	NP_689898.2:p.Ile309Asn
XM_005272148.3:c.1034T>A	XP_005272205.3:p.Ile345Asn
XM_005272149.3:c.1022T>A	XP_005272206.3:p.Ile341Asn
XM_006714741.2:c.1034T>A	XP_006714804.2:p.Ile345Asn
XM_011543765.1:c.1034T>A	XP_011542067.1:p.Ile345Asn
XM_011543766.1:c.815T>A	XP_011542068.1:p.Ile272Asn
XM_011543767.1:c.719T>A	XP_011542069.1:p.Ile240Asn
XM_011543768.1:c.599T>A	XP_011542070.1:p.Ile200Asn
XM_011543769.1:c.209T>A	XP_011542071.1:p.Ile70Asn
XM_005272149.4:c.1022T>A	XP_005272206.3:p.Ile341Asn
XM_011543765.2:c.1034T>A	XP_011542067.1:p.Ile345Asn
NM_005847.5:c.914T>A MANE Select	NP_005838.3:p.Ile305Asn
NM_152685.4:c.926T>A	NP_689898.2:p.Ile309Asn