Canonical Allele Identifier: CA2625129165
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60649465-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649465T>A , CM000676.2:g.60649465T>A GRCh38
NC_000014.8:g.61116183T>A , CM000676.1:g.61116183T>A GRCh37
NC_000014.7:g.60185936T>A NCBI36
NG_008231.1:g.4973A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.-276A>T MANE Select ENSP00000494686.1:n.-276A>T
ENST00000553535.2:n.248+2470A>T
ENST00000554986.2:c.42-2888A>T ENSP00000452700.2:n.42-2888A>T
ENST00000555955.3:n.1197+2470A>T
XM_017021602.2:c.-276A>T XP_016877091.1:n.-276A>T
NM_005982.4:c.-276A>T MANE Select NP_005973.1:n.-276A>T
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