Canonical Allele Identifier: CA446793909
Gene: SLC23A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.138715389G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139379700G>C , CM000667.2:g.139379700G>C GRCh38
NC_000005.9:g.138715389G>C , CM000667.1:g.138715389G>C GRCh37
NC_000005.8:g.138743288G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348729.8:c.903C>G MANE Select ENSP00000302701.4:p.Pro301=
ENST00000348729.7:c.903C>G ENSP00000302701.4:p.Pro301=
ENST00000353963.7:c.915C>G ENSP00000302851.5:p.Pro305=
ENST00000504513.1:c.164+256C>G
ENST00000506512.1:n.514C>G
NM_005847.4:c.903C>G NP_005838.3:p.Pro301=
NM_152685.3:c.915C>G NP_689898.2:p.Pro305=
XM_005272148.3:c.1023C>G XP_005272205.3:p.Pro341=
XM_005272149.3:c.1011C>G XP_005272206.3:p.Pro337=
XM_006714741.2:c.1023C>G XP_006714804.2:p.Pro341=
XM_011543765.1:c.1023C>G XP_011542067.1:p.Pro341=
XM_011543766.1:c.804C>G XP_011542068.1:p.Pro268=
XM_011543767.1:c.708C>G XP_011542069.1:p.Pro236=
XM_011543768.1:c.588C>G XP_011542070.1:p.Pro196=
XM_011543769.1:c.198C>G XP_011542071.1:p.Pro66=
XM_005272149.4:c.1011C>G XP_005272206.3:p.Pro337=
XM_011543765.2:c.1023C>G XP_011542067.1:p.Pro341=
NM_005847.5:c.903C>G MANE Select NP_005838.3:p.Pro301=
NM_152685.4:c.915C>G NP_689898.2:p.Pro305=