Canonical Allele Identifier: CA614369765
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1357305321
gnomAD v2: 14-61115952-G-T
gnomAD v3: 14-60649234-G-T
gnomAD v4: 14-60649234-G-T
MyVariant Identifiers: chr14:g.61115952G>T (hg19) chr14:g.60649234G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649234G>T , CM000676.2:g.60649234G>T GRCh38
NC_000014.8:g.61115952G>T , CM000676.1:g.61115952G>T GRCh37
NC_000014.7:g.60185705G>T NCBI36
NG_008231.1:g.5204C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.-45C>A MANE Select ENSP00000494686.1:n.-45C>A
ENST00000247182.6:c.-45C>A ENSP00000247182.5:n.-45C>A
ENST00000553535.2:n.249-2657C>A
ENST00000554986.2:c.42-2657C>A ENSP00000452700.2:n.42-2657C>A
ENST00000555955.3:n.1198-2657C>A
NM_005982.3:c.-45C>A NP_005973.1:n.-45C>A
XM_017021602.2:c.-45C>A XP_016877091.1:n.-45C>A
NM_005982.4:c.-45C>A MANE Select NP_005973.1:n.-45C>A
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