Canonical Allele Identifier: CA607597906

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1272935087
• gnomAD v2: 12-102150952-T-C
• gnomAD v4: 12-101757174-T-C
• MyVariant Identifiers: chr12:g.102150952T>C (hg19) ; chr12:g.101757174T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757174T>C , CM000674.2:g.101757174T>C	GRCh38
NC_000012.11:g.102150952T>C , CM000674.1:g.102150952T>C	GRCh37
NC_000012.10:g.100675083T>C	NCBI36
NG_021243.1:g.78694A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3434+38A>G MANE Select	ENSP00000299314.7:n.3434+38A>G
ENST00000299314.11:c.3434+38A>G	ENSP00000299314.7:n.3434+38A>G
ENST00000549194.1:n.338A>G
ENST00000549738.5:c.185+38A>G	ENSP00000450161.1:n.185+38A>G
ENST00000550718.1:c.246+38A>G
NM_024312.4:c.3434+38A>G	NP_077288.2:n.3434+38A>G
XM_006719593.2:c.3434+38A>G	XP_006719656.1:n.3434+38A>G
XM_011538731.1:c.3353+38A>G	XP_011537033.1:n.3353+38A>G
XM_006719593.3:c.3434+38A>G	XP_006719656.1:n.3434+38A>G
XM_011538731.2:c.3353+38A>G	XP_011537033.1:n.3353+38A>G
XM_017019961.1:c.3218+38A>G	XP_016875450.1:n.3218+38A>G
XM_017019962.2:c.2207+38A>G	XP_016875451.1:n.2207+38A>G
NM_024312.5:c.3434+38A>G MANE Select	NP_077288.2:n.3434+38A>G