Canonical Allele Identifier: CA355052198
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-165046911-G-C
MyVariant Identifiers: chr3:g.164764699G>C (hg19) chr3:g.165046911G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046911G>C , CM000665.2:g.165046911G>C GRCh38
NC_000003.11:g.164764699G>C , CM000665.1:g.164764699G>C GRCh37
NC_000003.10:g.166247393G>C NCBI36
NG_017043.1:g.36585C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264382.8:c.1817C>G MANE Select ENSP00000264382.3:p.Thr606Ser
ENST00000264382.7:c.1817C>G ENSP00000264382.3:p.Thr606Ser
NM_001041.3:c.1817C>G NP_001032.2:p.Thr606Ser
XM_011513078.1:c.1718C>G XP_011511380.1:p.Thr573Ser
XM_011513078.2:c.1718C>G XP_011511380.1:p.Thr573Ser
NM_001041.4:c.1817C>G MANE Select NP_001032.2:p.Thr606Ser
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