Canonical Allele Identifier: CA287944295

Gene: SHISA6

Linked Data

• dbSNP Id: rs8076431
• gnomAD v2: 17-11250219-C-A
• gnomAD v3: 17-11346902-C-A
• gnomAD v4: 17-11346902-C-A
• MyVariant Identifiers: chr17:g.11250219C>A (hg19) ; chr17:g.11346902C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11346902C>A , CM000679.2:g.11346902C>A	GRCh38
NC_000017.10:g.11250219C>A , CM000679.1:g.11250219C>A	GRCh37
NC_000017.9:g.11190944C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000441885.8:c.800-32512C>A MANE Select	ENSP00000390084.3:n.800-32512C>A
ENST00000343478.7:c.282-32512C>A
ENST00000409168.7:c.799+83376C>A	ENSP00000387157.3:n.799+83376C>A
ENST00000432116.7:c.800-32512C>A	ENSP00000388659.3:n.800-32512C>A
ENST00000441885.7:c.800-32512C>A	ENSP00000390084.3:n.800-32512C>A
NM_001173461.1:c.799+83376C>A	NP_001166932.1:n.799+83376C>A
NM_001173462.1:c.800-32512C>A	NP_001166933.1:n.800-32512C>A
NM_207386.3:c.800-32512C>A	NP_997269.2:n.800-32512C>A
XM_011523837.1:c.800-32512C>A	XP_011522139.1:n.800-32512C>A
XM_017024618.1:c.799+83376C>A	XP_016880107.1:n.799+83376C>A
NM_001173462.2:c.800-32512C>A	NP_001166933.1:n.800-32512C>A
NM_207386.4:c.800-32512C>A MANE Select	NP_997269.2:n.800-32512C>A