Canonical Allele Identifier: CA128242186

Gene: SLC23A1

Linked Data

• dbSNP Id: rs774267084
• gnomAD v4: 5-139379630-A-C
• MyVariant Identifiers: chr5:g.138715319A>C (hg19) ; chr5:g.139379630A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379630A>C , CM000667.2:g.139379630A>C	GRCh38
NC_000005.9:g.138715319A>C , CM000667.1:g.138715319A>C	GRCh37
NC_000005.8:g.138743218A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.925+48T>G MANE Select	ENSP00000302701.4:n.925+48T>G
ENST00000348729.7:c.925+48T>G	ENSP00000302701.4:n.925+48T>G
ENST00000353963.7:c.937+48T>G	ENSP00000302851.5:n.937+48T>G
ENST00000504513.1:c.165-276T>G
ENST00000506512.1:n.536+48T>G
NM_005847.4:c.925+48T>G	NP_005838.3:n.925+48T>G
NM_152685.3:c.937+48T>G	NP_689898.2:n.937+48T>G
XM_005272148.3:c.1045+48T>G	XP_005272205.3:n.1045+48T>G
XM_005272149.3:c.1033+48T>G	XP_005272206.3:n.1033+48T>G
XM_006714741.2:c.1045+48T>G	XP_006714804.2:n.1045+48T>G
XM_011543765.1:c.1045+48T>G	XP_011542067.1:n.1045+48T>G
XM_011543766.1:c.826+48T>G	XP_011542068.1:n.826+48T>G
XM_011543767.1:c.730+48T>G	XP_011542069.1:n.730+48T>G
XM_011543768.1:c.610+48T>G	XP_011542070.1:n.610+48T>G
XM_011543769.1:c.220+48T>G	XP_011542071.1:n.220+48T>G
XM_005272149.4:c.1033+48T>G	XP_005272206.3:n.1033+48T>G
XM_011543765.2:c.1045+48T>G	XP_011542067.1:n.1045+48T>G
NM_005847.5:c.925+48T>G MANE Select	NP_005838.3:n.925+48T>G
NM_152685.4:c.937+48T>G	NP_689898.2:n.937+48T>G