Canonical Allele Identifier: CA386293650

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952922359
• gnomAD v4: 12-101757600-T-C
• MyVariant Identifiers: chr12:g.102151378T>C (hg19) ; chr12:g.101757600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757600T>C , CM000674.2:g.101757600T>C	GRCh38
NC_000012.11:g.102151378T>C , CM000674.1:g.102151378T>C	GRCh37
NC_000012.10:g.100675509T>C	NCBI36
NG_021243.1:g.78268A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3307A>G MANE Select	ENSP00000299314.7:p.Lys1103Glu
ENST00000299314.11:c.3307A>G	ENSP00000299314.7:p.Lys1103Glu
ENST00000549194.1:n.173A>G
ENST00000549738.5:c.58A>G	ENSP00000450161.1:p.Lys20Glu
ENST00000550718.1:c.119A>G
NM_024312.4:c.3307A>G	NP_077288.2:p.Lys1103Glu
XM_006719593.2:c.3307A>G	XP_006719656.1:p.Lys1103Glu
XM_011538731.1:c.3226A>G	XP_011537033.1:p.Lys1076Glu
XM_006719593.3:c.3307A>G	XP_006719656.1:p.Lys1103Glu
XM_011538731.2:c.3226A>G	XP_011537033.1:p.Lys1076Glu
XM_017019961.1:c.3091A>G	XP_016875450.1:p.Lys1031Glu
XM_017019962.2:c.2080A>G	XP_016875451.1:p.Lys694Glu
NM_024312.5:c.3307A>G MANE Select	NP_077288.2:p.Lys1103Glu