Canonical Allele Identifier: CA1873291458
Community Standard Title: NM_001859.4(SLC31A1):c.-36+2451T=
Gene: SLC31A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113224129T= , CM000671.2:g.113224129T= GRCh38
NC_000009.11:g.115986409T= , CM000671.1:g.115986409T= GRCh37
NC_000009.10:g.115026230T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001859.4:c.-36+2451T= MANE Select NP_001850.1:n.-36+2451T=
ENST00000374212.5:c.-36+2451T= MANE Select ENSP00000363329.4:n.-36+2451T=
NM_001859.3:c.-36+2451T= NP_001850.1:n.-36+2451T=
ENST00000374212.4:c.-36+2451T= ENSP00000363329.4:n.-36+2451T=
ENST00000496650.1:n.92+2451T=
XR_002956933.1:n.167-804A=
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