Canonical Allele Identifier: CA436706662
Gene: SI HGNC NCBI

Linked Data

dbSNP Id: rs199885741
gnomAD v4: 3-165046904-T-A
MyVariant Identifiers: chr3:g.164764692T>A (hg19) chr3:g.165046904T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046904T>A , CM000665.2:g.165046904T>A GRCh38
NC_000003.11:g.164764692T>A , CM000665.1:g.164764692T>A GRCh37
NC_000003.10:g.166247386T>A NCBI36
NG_017043.1:g.36592A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1824A>T MANE Select ENSP00000264382.3:p.Ser608=
ENST00000264382.7:c.1824A>T ENSP00000264382.3:p.Ser608=
NM_001041.3:c.1824A>T NP_001032.2:p.Ser608=
XM_011513078.1:c.1725A>T XP_011511380.1:p.Ser575=
XM_011513078.2:c.1725A>T XP_011511380.1:p.Ser575=
NM_001041.4:c.1824A>T MANE Select NP_001032.2:p.Ser608=
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