Canonical Allele Identifier: CA361139485

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715391G>A (hg19) ; chr5:g.139379702G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379702G>A , CM000667.2:g.139379702G>A	GRCh38
NC_000005.9:g.138715391G>A , CM000667.1:g.138715391G>A	GRCh37
NC_000005.8:g.138743290G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.901C>T MANE Select	ENSP00000302701.4:p.Pro301Ser
ENST00000348729.7:c.901C>T	ENSP00000302701.4:p.Pro301Ser
ENST00000353963.7:c.913C>T	ENSP00000302851.5:p.Pro305Ser
ENST00000504513.1:c.164+254C>T
ENST00000506512.1:n.512C>T
NM_005847.4:c.901C>T	NP_005838.3:p.Pro301Ser
NM_152685.3:c.913C>T	NP_689898.2:p.Pro305Ser
XM_005272148.3:c.1021C>T	XP_005272205.3:p.Pro341Ser
XM_005272149.3:c.1009C>T	XP_005272206.3:p.Pro337Ser
XM_006714741.2:c.1021C>T	XP_006714804.2:p.Pro341Ser
XM_011543765.1:c.1021C>T	XP_011542067.1:p.Pro341Ser
XM_011543766.1:c.802C>T	XP_011542068.1:p.Pro268Ser
XM_011543767.1:c.706C>T	XP_011542069.1:p.Pro236Ser
XM_011543768.1:c.586C>T	XP_011542070.1:p.Pro196Ser
XM_011543769.1:c.196C>T	XP_011542071.1:p.Pro66Ser
XM_005272149.4:c.1009C>T	XP_005272206.3:p.Pro337Ser
XM_011543765.2:c.1021C>T	XP_011542067.1:p.Pro341Ser
NM_005847.5:c.901C>T MANE Select	NP_005838.3:p.Pro301Ser
NM_152685.4:c.913C>T	NP_689898.2:p.Pro305Ser