Canonical Allele Identifier: CA346798704
Gene: SIX3 HGNC NCBI

Linked Data

dbSNP Id: rs775115929
gnomAD v2: 2-45169257-C-T
gnomAD v4: 2-44942118-C-T
MyVariant Identifiers: chr2:g.45169257C>T (hg19) chr2:g.44942118C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.14C>T MANE Select ENSP00000260653.3:p.Ser5Phe
ENST00000260653.4:c.14C>T ENSP00000260653.3:p.Ser5Phe
NM_005413.3:c.14C>T NP_005404.1:p.Ser5Phe
XM_011533042.1:c.14C>T XP_011531344.1:p.Ser5Phe
NM_005413.4:c.14C>T MANE Select NP_005404.1:p.Ser5Phe
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