Canonical Allele Identifier: CA361139466

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715387C>G (hg19) ; chr5:g.139379698C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379698C>G , CM000667.2:g.139379698C>G	GRCh38
NC_000005.9:g.138715387C>G , CM000667.1:g.138715387C>G	GRCh37
NC_000005.8:g.138743286C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.905G>C MANE Select	ENSP00000302701.4:p.Trp302Ser
ENST00000348729.7:c.905G>C	ENSP00000302701.4:p.Trp302Ser
ENST00000353963.7:c.917G>C	ENSP00000302851.5:p.Trp306Ser
ENST00000504513.1:c.164+258G>C
ENST00000506512.1:n.516G>C
NM_005847.4:c.905G>C	NP_005838.3:p.Trp302Ser
NM_152685.3:c.917G>C	NP_689898.2:p.Trp306Ser
XM_005272148.3:c.1025G>C	XP_005272205.3:p.Trp342Ser
XM_005272149.3:c.1013G>C	XP_005272206.3:p.Trp338Ser
XM_006714741.2:c.1025G>C	XP_006714804.2:p.Trp342Ser
XM_011543765.1:c.1025G>C	XP_011542067.1:p.Trp342Ser
XM_011543766.1:c.806G>C	XP_011542068.1:p.Trp269Ser
XM_011543767.1:c.710G>C	XP_011542069.1:p.Trp237Ser
XM_011543768.1:c.590G>C	XP_011542070.1:p.Trp197Ser
XM_011543769.1:c.200G>C	XP_011542071.1:p.Trp67Ser
XM_005272149.4:c.1013G>C	XP_005272206.3:p.Trp338Ser
XM_011543765.2:c.1025G>C	XP_011542067.1:p.Trp342Ser
NM_005847.5:c.905G>C MANE Select	NP_005838.3:p.Trp302Ser
NM_152685.4:c.917G>C	NP_689898.2:p.Trp306Ser