Canonical Allele Identifier: CA1642232
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs775115929
ExAC: 2:45169257 C / G
MyVariant Identifiers: chr2:g.45169257C>G (hg19) chr2:g.44942118C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942118C>G , CM000664.2:g.44942118C>G GRCh38
NC_000002.11:g.45169257C>G , CM000664.1:g.45169257C>G GRCh37
NC_000002.10:g.45022761C>G NCBI36
NG_016222.1:g.5221C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.14C>G MANE Select ENSP00000260653.3:p.Ser5Cys
ENST00000260653.4:c.14C>G ENSP00000260653.3:p.Ser5Cys
NM_005413.3:c.14C>G NP_005404.1:p.Ser5Cys
XM_011533042.1:c.14C>G XP_011531344.1:p.Ser5Cys
NM_005413.4:c.14C>G MANE Select NP_005404.1:p.Ser5Cys
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