Canonical Allele Identifier: CA238279931

Gene: GNS

Linked Data

• dbSNP Id: rs745402287
• gnomAD v4: 12-64729114-A-C
• MyVariant Identifiers: chr12:g.65122894A>C (hg19) ; chr12:g.64729114A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64729114A>C , CM000674.2:g.64729114A>C	GRCh38
NC_000012.11:g.65122894A>C , CM000674.1:g.65122894A>C	GRCh37
NC_000012.10:g.63409161A>C	NCBI36
NG_008955.1:g.35333T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1099-57T>G MANE Select	ENSP00000258145.3:n.1099-57T>G
ENST00000258145.7:c.1099-57T>G	ENSP00000258145.3:n.1099-57T>G
ENST00000418919.6:c.931-57T>G	ENSP00000413130.2:n.931-57T>G
ENST00000537823.1:n.41T>G
ENST00000540196.5:c.557-6001T>G
ENST00000540883.1:n.105T>G
ENST00000541781.5:n.1154-57T>G
ENST00000542058.5:c.1039-57T>G	ENSP00000444819.1:n.1039-57T>G
ENST00000543646.5:c.1195-57T>G	ENSP00000438497.1:n.1195-57T>G
NM_002076.3:c.1099-57T>G	NP_002067.1:n.1099-57T>G
NM_002076.4:c.1099-57T>G MANE Select	NP_002067.1:n.1099-57T>G