Canonical Allele Identifier: CA385604124

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122744G>C (hg19) ; chr12:g.64728964G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728964G>C , CM000674.2:g.64728964G>C	GRCh38
NC_000012.11:g.65122744G>C , CM000674.1:g.65122744G>C	GRCh37
NC_000012.10:g.63409011G>C	NCBI36
NG_008955.1:g.35483C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1192C>G MANE Select	ENSP00000258145.3:p.Pro398Ala
ENST00000258145.7:c.1192C>G	ENSP00000258145.3:p.Pro398Ala
ENST00000418919.6:c.1024C>G	ENSP00000413130.2:p.Pro342Ala
ENST00000537823.1:n.191C>G
ENST00000540196.5:c.557-5851C>G
ENST00000540883.1:n.255C>G
ENST00000541781.5:n.1247C>G
ENST00000542058.5:c.1132C>G	ENSP00000444819.1:p.Pro378Ala
ENST00000543646.5:c.1288C>G	ENSP00000438497.1:p.Pro430Ala
NM_002076.3:c.1192C>G	NP_002067.1:p.Pro398Ala
NM_002076.4:c.1192C>G MANE Select	NP_002067.1:p.Pro398Ala