Canonical Allele Identifier: CA386299004

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102158599T>A (hg19) ; chr12:g.101764821T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764821T>A , CM000674.2:g.101764821T>A	GRCh38
NC_000012.11:g.102158599T>A , CM000674.1:g.102158599T>A	GRCh37
NC_000012.10:g.100682730T>A	NCBI36
NG_021243.1:g.71047A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2096A>T MANE Select	ENSP00000299314.7:p.Asn699Ile
ENST00000299314.11:c.2096A>T	ENSP00000299314.7:p.Asn699Ile
NM_024312.4:c.2096A>T	NP_077288.2:p.Asn699Ile
XM_006719593.2:c.2096A>T	XP_006719656.1:p.Asn699Ile
XM_011538731.1:c.2015A>T	XP_011537033.1:p.Asn672Ile
XM_006719593.3:c.2096A>T	XP_006719656.1:p.Asn699Ile
XM_011538731.2:c.2015A>T	XP_011537033.1:p.Asn672Ile
XM_017019961.1:c.1880A>T	XP_016875450.1:p.Asn627Ile
XM_017019962.2:c.869A>T	XP_016875451.1:p.Asn290Ile
NM_024312.5:c.2096A>T MANE Select	NP_077288.2:p.Asn699Ile