Canonical Allele Identifier: CA386294772

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153873G>C (hg19) ; chr12:g.101760095G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760095G>C , CM000674.2:g.101760095G>C	GRCh38
NC_000012.11:g.102153873G>C , CM000674.1:g.102153873G>C	GRCh37
NC_000012.10:g.100678004G>C	NCBI36
NG_021243.1:g.75773C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3184C>G MANE Select	ENSP00000299314.7:p.Pro1062Ala
ENST00000299314.11:c.3184C>G	ENSP00000299314.7:p.Pro1062Ala
ENST00000549194.1:n.50C>G
NM_024312.4:c.3184C>G	NP_077288.2:p.Pro1062Ala
XM_006719593.2:c.3184C>G	XP_006719656.1:p.Pro1062Ala
XM_011538731.1:c.3103C>G	XP_011537033.1:p.Pro1035Ala
XM_006719593.3:c.3184C>G	XP_006719656.1:p.Pro1062Ala
XM_011538731.2:c.3103C>G	XP_011537033.1:p.Pro1035Ala
XM_017019961.1:c.2968C>G	XP_016875450.1:p.Pro990Ala
XM_017019962.2:c.1957C>G	XP_016875451.1:p.Pro653Ala
NM_024312.5:c.3184C>G MANE Select	NP_077288.2:p.Pro1062Ala