Canonical Allele Identifier: CA614369361
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1054948020
gnomAD v2: 14-61111431-G-A
MyVariant Identifiers: chr14:g.61111431G>A (hg19) chr14:g.60644713G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644713G>A , CM000676.2:g.60644713G>A GRCh38
NC_000014.8:g.61111431G>A , CM000676.1:g.61111431G>A GRCh37
NC_000014.7:g.60181184G>A NCBI36
NG_008231.1:g.9725C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1570C>T MANE Select ENSP00000494686.1:n.*1570C>T
ENST00000247182.6:c.*1570C>T ENSP00000247182.5:n.*1570C>T
ENST00000554986.2:c.*1570C>T ENSP00000452700.2:n.*1570C>T
NM_005982.3:c.*1570C>T NP_005973.1:n.*1570C>T
XM_017021602.2:c.*1844C>T XP_016877091.1:n.*1844C>T
NM_005982.4:c.*1570C>T MANE Select NP_005973.1:n.*1570C>T
Search 100 bp 5'
Search 100 bp 3'