Canonical Allele Identifier: CA385604241

Gene: GNS

Linked Data

• dbSNP Id: rs1263703439
• gnomAD v2: 12-65122772-C-G
• gnomAD v4: 12-64728992-C-G
• MyVariant Identifiers: chr12:g.65122772C>G (hg19) ; chr12:g.64728992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728992C>G , CM000674.2:g.64728992C>G	GRCh38
NC_000012.11:g.65122772C>G , CM000674.1:g.65122772C>G	GRCh37
NC_000012.10:g.63409039C>G	NCBI36
NG_008955.1:g.35455G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258145.8:c.1164G>C MANE Select	ENSP00000258145.3:p.Lys388Asn
ENST00000258145.7:c.1164G>C	ENSP00000258145.3:p.Lys388Asn
ENST00000418919.6:c.996G>C	ENSP00000413130.2:p.Lys332Asn
ENST00000537823.1:n.163G>C
ENST00000540196.5:c.557-5879G>C
ENST00000540883.1:n.227G>C
ENST00000541781.5:n.1219G>C
ENST00000542058.5:c.1104G>C	ENSP00000444819.1:p.Lys368Asn
ENST00000543646.5:c.1260G>C	ENSP00000438497.1:p.Lys420Asn
NM_002076.3:c.1164G>C	NP_002067.1:p.Lys388Asn
NM_002076.4:c.1164G>C MANE Select	NP_002067.1:p.Lys388Asn