Canonical Allele Identifier: CA386294060

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101757653-G-T
• MyVariant Identifiers: chr12:g.102151431G>T (hg19) ; chr12:g.101757653G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757653G>T , CM000674.2:g.101757653G>T	GRCh38
NC_000012.11:g.102151431G>T , CM000674.1:g.102151431G>T	GRCh37
NC_000012.10:g.100675562G>T	NCBI36
NG_021243.1:g.78215C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3254C>A MANE Select	ENSP00000299314.7:p.Pro1085Gln
ENST00000299314.11:c.3254C>A	ENSP00000299314.7:p.Pro1085Gln
ENST00000549194.1:n.120C>A
ENST00000549738.5:c.5C>A	ENSP00000450161.1:p.Pro2Gln
ENST00000550718.1:c.66C>A
NM_024312.4:c.3254C>A	NP_077288.2:p.Pro1085Gln
XM_006719593.2:c.3254C>A	XP_006719656.1:p.Pro1085Gln
XM_011538731.1:c.3173C>A	XP_011537033.1:p.Pro1058Gln
XM_006719593.3:c.3254C>A	XP_006719656.1:p.Pro1085Gln
XM_011538731.2:c.3173C>A	XP_011537033.1:p.Pro1058Gln
XM_017019961.1:c.3038C>A	XP_016875450.1:p.Pro1013Gln
XM_017019962.2:c.2027C>A	XP_016875451.1:p.Pro676Gln
NM_024312.5:c.3254C>A MANE Select	NP_077288.2:p.Pro1085Gln