Canonical Allele Identifier: CA252414

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2774
• ClinVar RCV Id: RCV000002903 ; RCV000031965 ; RCV000669013
• dbSNP Id: rs34159654
• ExAC: 12:102224444 T / G
• gnomAD v2: 12-102224444-T-G
• gnomAD v3: 12-101830666-T-G
• gnomAD v4: 12-101830666-T-G
• MyVariant Identifiers: chr12:g.102224444T>G (hg19) ; chr12:g.101830666T>G (hg38)
• PubMed: PMID:16465621 ; PMID:20301730

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830666T>G , CM000674.2:g.101830666T>G	GRCh38
NC_000012.11:g.102224444T>G , CM000674.1:g.102224444T>G	GRCh37
NC_000012.10:g.100748575T>G	NCBI36
NG_021243.1:g.5202A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.10A>C MANE Select	ENSP00000299314.7:p.Lys4Gln
ENST00000299314.11:c.10A>C	ENSP00000299314.7:p.Lys4Gln
ENST00000392919.4:c.10A>C	ENSP00000376651.4:p.Lys4Gln
ENST00000549165.1:c.10A>C	ENSP00000450413.1:p.Lys4Gln
ENST00000549940.5:c.10A>C	ENSP00000449150.1:p.Lys4Gln
NM_024312.4:c.10A>C	NP_077288.2:p.Lys4Gln
XM_006719593.2:c.10A>C	XP_006719656.1:p.Lys4Gln
XM_006719593.3:c.10A>C	XP_006719656.1:p.Lys4Gln
XM_017019961.1:c.-140A>C	XP_016875450.1:n.-140A>C
XM_017019962.2:c.-1341A>C	XP_016875451.1:n.-1341A>C
NM_024312.5:c.10A>C MANE Select	NP_077288.2:p.Lys4Gln