Canonical Allele Identifier: CA361139842

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715474A>G (hg19) ; chr5:g.139379785A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379785A>G , CM000667.2:g.139379785A>G	GRCh38
NC_000005.9:g.138715474A>G , CM000667.1:g.138715474A>G	GRCh37
NC_000005.8:g.138743373A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.818T>C MANE Select	ENSP00000302701.4:p.Leu273Ser
ENST00000348729.7:c.818T>C	ENSP00000302701.4:p.Leu273Ser
ENST00000353963.7:c.830T>C	ENSP00000302851.5:p.Leu277Ser
ENST00000504513.1:c.164+171T>C
ENST00000506512.1:n.429T>C
NM_005847.4:c.818T>C	NP_005838.3:p.Leu273Ser
NM_152685.3:c.830T>C	NP_689898.2:p.Leu277Ser
XM_005272148.3:c.938T>C	XP_005272205.3:p.Leu313Ser
XM_005272149.3:c.926T>C	XP_005272206.3:p.Leu309Ser
XM_006714741.2:c.938T>C	XP_006714804.2:p.Leu313Ser
XM_011543765.1:c.938T>C	XP_011542067.1:p.Leu313Ser
XM_011543766.1:c.719T>C	XP_011542068.1:p.Leu240Ser
XM_011543767.1:c.623T>C	XP_011542069.1:p.Leu208Ser
XM_011543768.1:c.503T>C	XP_011542070.1:p.Leu168Ser
XM_011543769.1:c.113T>C	XP_011542071.1:p.Leu38Ser
XM_005272149.4:c.926T>C	XP_005272206.3:p.Leu309Ser
XM_011543765.2:c.938T>C	XP_011542067.1:p.Leu313Ser
NM_005847.5:c.818T>C MANE Select	NP_005838.3:p.Leu273Ser
NM_152685.4:c.830T>C	NP_689898.2:p.Leu277Ser