Canonical Allele Identifier: CA287944296

Gene: SHISA6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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