Canonical Allele Identifier: CA386294610

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153824T>A (hg19) ; chr12:g.101760046T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760046T>A , CM000674.2:g.101760046T>A	GRCh38
NC_000012.11:g.102153824T>A , CM000674.1:g.102153824T>A	GRCh37
NC_000012.10:g.100677955T>A	NCBI36
NG_021243.1:g.75822A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3233A>T MANE Select	ENSP00000299314.7:p.Tyr1078Phe
ENST00000299314.11:c.3233A>T	ENSP00000299314.7:p.Tyr1078Phe
ENST00000549194.1:n.99A>T
ENST00000550718.1:c.45A>T
NM_024312.4:c.3233A>T	NP_077288.2:p.Tyr1078Phe
XM_006719593.2:c.3233A>T	XP_006719656.1:p.Tyr1078Phe
XM_011538731.1:c.3152A>T	XP_011537033.1:p.Tyr1051Phe
XM_006719593.3:c.3233A>T	XP_006719656.1:p.Tyr1078Phe
XM_011538731.2:c.3152A>T	XP_011537033.1:p.Tyr1051Phe
XM_017019961.1:c.3017A>T	XP_016875450.1:p.Tyr1006Phe
XM_017019962.2:c.2006A>T	XP_016875451.1:p.Tyr669Phe
NM_024312.5:c.3233A>T MANE Select	NP_077288.2:p.Tyr1078Phe