Canonical Allele Identifier: CA385604235

Gene: GNS

Linked Data

• gnomAD v4: 12-64728991-T-C
• MyVariant Identifiers: chr12:g.65122771T>C (hg19) ; chr12:g.64728991T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728991T>C , CM000674.2:g.64728991T>C	GRCh38
NC_000012.11:g.65122771T>C , CM000674.1:g.65122771T>C	GRCh37
NC_000012.10:g.63409038T>C	NCBI36
NG_008955.1:g.35456A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258145.8:c.1165A>G MANE Select	ENSP00000258145.3:p.Thr389Ala
ENST00000258145.7:c.1165A>G	ENSP00000258145.3:p.Thr389Ala
ENST00000418919.6:c.997A>G	ENSP00000413130.2:p.Thr333Ala
ENST00000537823.1:n.164A>G
ENST00000540196.5:c.557-5878A>G
ENST00000540883.1:n.228A>G
ENST00000541781.5:n.1220A>G
ENST00000542058.5:c.1105A>G	ENSP00000444819.1:p.Thr369Ala
ENST00000543646.5:c.1261A>G	ENSP00000438497.1:p.Thr421Ala
NM_002076.3:c.1165A>G	NP_002067.1:p.Thr389Ala
NM_002076.4:c.1165A>G MANE Select	NP_002067.1:p.Thr389Ala