Canonical Allele Identifier: CA355052192
Gene: SI HGNC NCBI

Linked Data

gnomAD v4: 3-165046908-G-T
MyVariant Identifiers: chr3:g.164764696G>T (hg19) chr3:g.165046908G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165046908G>T , CM000665.2:g.165046908G>T GRCh38
NC_000003.11:g.164764696G>T , CM000665.1:g.164764696G>T GRCh37
NC_000003.10:g.166247390G>T NCBI36
NG_017043.1:g.36588C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1820C>A MANE Select ENSP00000264382.3:p.Ala607Asp
ENST00000264382.7:c.1820C>A ENSP00000264382.3:p.Ala607Asp
NM_001041.3:c.1820C>A NP_001032.2:p.Ala607Asp
XM_011513078.1:c.1721C>A XP_011511380.1:p.Ala574Asp
XM_011513078.2:c.1721C>A XP_011511380.1:p.Ala574Asp
NM_001041.4:c.1820C>A MANE Select NP_001032.2:p.Ala607Asp
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