Canonical Allele Identifier: CA261719633
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs547309317
gnomAD v3: 14-60644765-G-A
gnomAD v4: 14-60644765-G-A
MyVariant Identifiers: chr14:g.61111483G>A (hg19) chr14:g.60644765G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644765G>A , CM000676.2:g.60644765G>A GRCh38
NC_000014.8:g.61111483G>A , CM000676.1:g.61111483G>A GRCh37
NC_000014.7:g.60181236G>A NCBI36
NG_008231.1:g.9673C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1518C>T MANE Select ENSP00000494686.1:n.*1518C>T
ENST00000247182.6:c.*1518C>T ENSP00000247182.5:n.*1518C>T
ENST00000554986.2:c.*1518C>T ENSP00000452700.2:n.*1518C>T
NM_005982.3:c.*1518C>T NP_005973.1:n.*1518C>T
XM_017021602.2:c.*1792C>T XP_016877091.1:n.*1792C>T
NM_005982.4:c.*1518C>T MANE Select NP_005973.1:n.*1518C>T
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