Canonical Allele Identifier: CA386296282

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155436T>C (hg19) ; chr12:g.101761658T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761658T>C , CM000674.2:g.101761658T>C	GRCh38
NC_000012.11:g.102155436T>C , CM000674.1:g.102155436T>C	GRCh37
NC_000012.10:g.100679567T>C	NCBI36
NG_021243.1:g.74210A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2821A>G MANE Select	ENSP00000299314.7:p.Ile941Val
ENST00000299314.11:c.2821A>G	ENSP00000299314.7:p.Ile941Val
NM_024312.4:c.2821A>G	NP_077288.2:p.Ile941Val
XM_006719593.2:c.2821A>G	XP_006719656.1:p.Ile941Val
XM_011538731.1:c.2740A>G	XP_011537033.1:p.Ile914Val
XM_006719593.3:c.2821A>G	XP_006719656.1:p.Ile941Val
XM_011538731.2:c.2740A>G	XP_011537033.1:p.Ile914Val
XM_017019961.1:c.2605A>G	XP_016875450.1:p.Ile869Val
XM_017019962.2:c.1594A>G	XP_016875451.1:p.Ile532Val
NM_024312.5:c.2821A>G MANE Select	NP_077288.2:p.Ile941Val