Canonical Allele Identifier: CA12800524
Gene: SLC45A4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.141290216T>G , CM000670.2:g.141290216T>G GRCh38
NC_000008.10:g.142300315T>G , CM000670.1:g.142300315T>G GRCh37
NC_000008.9:g.142369497T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000517878.6:c.-401+17880A>C MANE Select ENSP00000428137.1:n.-401+17880A>C
ENST00000520137.1:c.-339+17880A>C ENSP00000429033.1:n.-339+17880A>C
ENST00000521804.1:n.197+17880A>C
XM_011517169.1:c.-401+17880A>C XP_011515471.1:n.-401+17880A>C
XM_011517170.1:c.-401+9183A>C XP_011515472.1:n.-401+9183A>C
XM_011517171.1:c.-401+15649A>C XP_011515473.1:n.-401+15649A>C
XM_011517173.1:c.-401+17880A>C XP_011515475.1:n.-401+17880A>C
XM_011517175.1:c.52+9183A>C XP_011515477.1:n.52+9183A>C
XM_011517176.1:c.-401+17880A>C XP_011515478.1:n.-401+17880A>C
XM_011517179.1:c.-339+17880A>C XP_011515481.1:n.-339+17880A>C
XR_928719.1:n.574+30A>C
XM_011517169.2:c.-401+17880A>C XP_011515471.1:n.-401+17880A>C
XM_011517170.2:c.-401+9183A>C XP_011515472.1:n.-401+9183A>C
XM_011517171.2:c.-401+15649A>C XP_011515473.1:n.-401+15649A>C
XM_011517173.2:c.-401+17880A>C XP_011515475.1:n.-401+17880A>C
XM_011517176.2:c.-401+17880A>C XP_011515478.1:n.-401+17880A>C
XM_011517179.2:c.-339+17880A>C XP_011515481.1:n.-339+17880A>C
XM_017013648.1:c.-401+9183A>C XP_016869137.1:n.-401+9183A>C
XM_017013649.1:c.-401+16924A>C XP_016869138.1:n.-401+16924A>C
XM_017013650.2:c.52+9183A>C XP_016869139.1:n.52+9183A>C
NM_001286646.2:c.-401+17880A>C MANE Select NP_001273575.1:n.-401+17880A>C
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