Canonical Allele Identifier: CA361139452

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715385T>G (hg19) ; chr5:g.139379696T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379696T>G , CM000667.2:g.139379696T>G	GRCh38
NC_000005.9:g.138715385T>G , CM000667.1:g.138715385T>G	GRCh37
NC_000005.8:g.138743284T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.907A>C MANE Select	ENSP00000302701.4:p.Ile303Leu
ENST00000348729.7:c.907A>C	ENSP00000302701.4:p.Ile303Leu
ENST00000353963.7:c.919A>C	ENSP00000302851.5:p.Ile307Leu
ENST00000504513.1:c.164+260A>C
ENST00000506512.1:n.518A>C
NM_005847.4:c.907A>C	NP_005838.3:p.Ile303Leu
NM_152685.3:c.919A>C	NP_689898.2:p.Ile307Leu
XM_005272148.3:c.1027A>C	XP_005272205.3:p.Ile343Leu
XM_005272149.3:c.1015A>C	XP_005272206.3:p.Ile339Leu
XM_006714741.2:c.1027A>C	XP_006714804.2:p.Ile343Leu
XM_011543765.1:c.1027A>C	XP_011542067.1:p.Ile343Leu
XM_011543766.1:c.808A>C	XP_011542068.1:p.Ile270Leu
XM_011543767.1:c.712A>C	XP_011542069.1:p.Ile238Leu
XM_011543768.1:c.592A>C	XP_011542070.1:p.Ile198Leu
XM_011543769.1:c.202A>C	XP_011542071.1:p.Ile68Leu
XM_005272149.4:c.1015A>C	XP_005272206.3:p.Ile339Leu
XM_011543765.2:c.1027A>C	XP_011542067.1:p.Ile343Leu
NM_005847.5:c.907A>C MANE Select	NP_005838.3:p.Ile303Leu
NM_152685.4:c.919A>C	NP_689898.2:p.Ile307Leu