Canonical Allele Identifier: CA386294699

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153855G>T (hg19) ; chr12:g.101760077G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760077G>T , CM000674.2:g.101760077G>T	GRCh38
NC_000012.11:g.102153855G>T , CM000674.1:g.102153855G>T	GRCh37
NC_000012.10:g.100677986G>T	NCBI36
NG_021243.1:g.75791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3202C>A MANE Select	ENSP00000299314.7:p.Leu1068Ile
ENST00000299314.11:c.3202C>A	ENSP00000299314.7:p.Leu1068Ile
ENST00000549194.1:n.68C>A
ENST00000550718.1:c.14C>A
NM_024312.4:c.3202C>A	NP_077288.2:p.Leu1068Ile
XM_006719593.2:c.3202C>A	XP_006719656.1:p.Leu1068Ile
XM_011538731.1:c.3121C>A	XP_011537033.1:p.Leu1041Ile
XM_006719593.3:c.3202C>A	XP_006719656.1:p.Leu1068Ile
XM_011538731.2:c.3121C>A	XP_011537033.1:p.Leu1041Ile
XM_017019961.1:c.2986C>A	XP_016875450.1:p.Leu996Ile
XM_017019962.2:c.1975C>A	XP_016875451.1:p.Leu659Ile
NM_024312.5:c.3202C>A MANE Select	NP_077288.2:p.Leu1068Ile