Canonical Allele Identifier: CA386297481

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101764240-G-A
• MyVariant Identifiers: chr12:g.102158018G>A (hg19) ; chr12:g.101764240G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764240G>A , CM000674.2:g.101764240G>A	GRCh38
NC_000012.11:g.102158018G>A , CM000674.1:g.102158018G>A	GRCh37
NC_000012.10:g.100682149G>A	NCBI36
NG_021243.1:g.71628C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2677C>T MANE Select	ENSP00000299314.7:p.Pro893Ser
ENST00000299314.11:c.2677C>T	ENSP00000299314.7:p.Pro893Ser
NM_024312.4:c.2677C>T	NP_077288.2:p.Pro893Ser
XM_006719593.2:c.2677C>T	XP_006719656.1:p.Pro893Ser
XM_011538731.1:c.2596C>T	XP_011537033.1:p.Pro866Ser
XM_006719593.3:c.2677C>T	XP_006719656.1:p.Pro893Ser
XM_011538731.2:c.2596C>T	XP_011537033.1:p.Pro866Ser
XM_017019961.1:c.2461C>T	XP_016875450.1:p.Pro821Ser
XM_017019962.2:c.1450C>T	XP_016875451.1:p.Pro484Ser
NM_024312.5:c.2677C>T MANE Select	NP_077288.2:p.Pro893Ser