Canonical Allele Identifier: CA386294592

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153816G>C (hg19) ; chr12:g.101760038G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760038G>C , CM000674.2:g.101760038G>C	GRCh38
NC_000012.11:g.102153816G>C , CM000674.1:g.102153816G>C	GRCh37
NC_000012.10:g.100677947G>C	NCBI36
NG_021243.1:g.75830C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3241C>G MANE Select	ENSP00000299314.7:p.Pro1081Ala
ENST00000299314.11:c.3241C>G	ENSP00000299314.7:p.Pro1081Ala
ENST00000549194.1:n.107C>G
ENST00000550718.1:c.53C>G
NM_024312.4:c.3241C>G	NP_077288.2:p.Pro1081Ala
XM_006719593.2:c.3241C>G	XP_006719656.1:p.Pro1081Ala
XM_011538731.1:c.3160C>G	XP_011537033.1:p.Pro1054Ala
XM_006719593.3:c.3241C>G	XP_006719656.1:p.Pro1081Ala
XM_011538731.2:c.3160C>G	XP_011537033.1:p.Pro1054Ala
XM_017019961.1:c.3025C>G	XP_016875450.1:p.Pro1009Ala
XM_017019962.2:c.2014C>G	XP_016875451.1:p.Pro672Ala
NM_024312.5:c.3241C>G MANE Select	NP_077288.2:p.Pro1081Ala