Canonical Allele Identifier: CA1586305936
Gene: SLC23A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139383837T>G , CM000667.2:g.139383837T>G GRCh38
NC_000005.9:g.138719526T>G , CM000667.1:g.138719526T>G GRCh37
NC_000005.8:g.138747425T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000508270.1:c.196+521A>C ENSP00000427271.1:n.196+521A>C
XM_005272148.3:c.82+521A>C XP_005272205.3:n.82+521A>C
XM_005272149.3:c.82+521A>C XP_005272206.3:n.82+521A>C
XM_006714741.2:c.82+521A>C XP_006714804.2:n.82+521A>C
XM_011543765.1:c.82+521A>C XP_011542067.1:n.82+521A>C
XM_011543766.1:c.82+521A>C XP_011542068.1:n.82+521A>C
XM_011543767.1:c.82+521A>C XP_011542069.1:n.82+521A>C
XM_011543769.1:c.-404+521A>C XP_011542071.1:n.-404+521A>C
XM_005272149.4:c.82+521A>C XP_005272206.3:n.82+521A>C
XM_011543765.2:c.82+521A>C XP_011542067.1:n.82+521A>C