Canonical Allele Identifier: CA287944302

Gene: SHISA6

Linked Data

• dbSNP Id: rs554343990
• gnomAD v3: 17-11346986-T-C
• gnomAD v4: 17-11346986-T-C
• MyVariant Identifiers: chr17:g.11250303T>C (hg19) ; chr17:g.11346986T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11346986T>C , CM000679.2:g.11346986T>C	GRCh38
NC_000017.10:g.11250303T>C , CM000679.1:g.11250303T>C	GRCh37
NC_000017.9:g.11191028T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441885.8:c.800-32428T>C MANE Select	ENSP00000390084.3:n.800-32428T>C
ENST00000343478.7:c.282-32428T>C
ENST00000409168.7:c.799+83460T>C	ENSP00000387157.3:n.799+83460T>C
ENST00000432116.7:c.800-32428T>C	ENSP00000388659.3:n.800-32428T>C
ENST00000441885.7:c.800-32428T>C	ENSP00000390084.3:n.800-32428T>C
NM_001173461.1:c.799+83460T>C	NP_001166932.1:n.799+83460T>C
NM_001173462.1:c.800-32428T>C	NP_001166933.1:n.800-32428T>C
NM_207386.3:c.800-32428T>C	NP_997269.2:n.800-32428T>C
XM_011523837.1:c.800-32428T>C	XP_011522139.1:n.800-32428T>C
XM_017024618.1:c.799+83460T>C	XP_016880107.1:n.799+83460T>C
NM_001173462.2:c.800-32428T>C	NP_001166933.1:n.800-32428T>C
NM_207386.4:c.800-32428T>C MANE Select	NP_997269.2:n.800-32428T>C