Canonical Allele Identifier: CA355029988
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-164996750-A-C
MyVariant Identifiers: chr3:g.164714538A>C (hg19) chr3:g.164996750A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.164996750A>C , CM000665.2:g.164996750A>C GRCh38
NC_000003.11:g.164714538A>C , CM000665.1:g.164714538A>C GRCh37
NC_000003.10:g.166197232A>C NCBI36
NG_017043.1:g.86746T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.4563T>G MANE Select ENSP00000264382.3:p.Phe1521Leu
ENST00000264382.7:c.4563T>G ENSP00000264382.3:p.Phe1521Leu
NM_001041.3:c.4563T>G NP_001032.2:p.Phe1521Leu
XM_011513078.1:c.4464T>G XP_011511380.1:p.Phe1488Leu
XM_011513078.2:c.4464T>G XP_011511380.1:p.Phe1488Leu
NM_001041.4:c.4563T>G MANE Select NP_001032.2:p.Phe1521Leu
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