Canonical Allele Identifier: CA386294654

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101760065-G-C
• MyVariant Identifiers: chr12:g.102153843G>C (hg19) ; chr12:g.101760065G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760065G>C , CM000674.2:g.101760065G>C	GRCh38
NC_000012.11:g.102153843G>C , CM000674.1:g.102153843G>C	GRCh37
NC_000012.10:g.100677974G>C	NCBI36
NG_021243.1:g.75803C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3214C>G MANE Select	ENSP00000299314.7:p.Pro1072Ala
ENST00000299314.11:c.3214C>G	ENSP00000299314.7:p.Pro1072Ala
ENST00000549194.1:n.80C>G
ENST00000550718.1:c.26C>G
NM_024312.4:c.3214C>G	NP_077288.2:p.Pro1072Ala
XM_006719593.2:c.3214C>G	XP_006719656.1:p.Pro1072Ala
XM_011538731.1:c.3133C>G	XP_011537033.1:p.Pro1045Ala
XM_006719593.3:c.3214C>G	XP_006719656.1:p.Pro1072Ala
XM_011538731.2:c.3133C>G	XP_011537033.1:p.Pro1045Ala
XM_017019961.1:c.2998C>G	XP_016875450.1:p.Pro1000Ala
XM_017019962.2:c.1987C>G	XP_016875451.1:p.Pro663Ala
NM_024312.5:c.3214C>G MANE Select	NP_077288.2:p.Pro1072Ala