Canonical Allele Identifier: CA6746318

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1572674
• ClinVar RCV Id: RCV002207766
• dbSNP Id: rs201970402
• ExAC: 12:102155327 A / G
• gnomAD v2: 12-102155327-A-G
• gnomAD v3: 12-101761549-A-G
• gnomAD v4: 12-101761549-A-G
• MyVariant Identifiers: chr12:g.102155327A>G (hg19) ; chr12:g.101761549A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761549A>G , CM000674.2:g.101761549A>G	GRCh38
NC_000012.11:g.102155327A>G , CM000674.1:g.102155327A>G	GRCh37
NC_000012.10:g.100679458A>G	NCBI36
NG_021243.1:g.74319T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2915+15T>C MANE Select	ENSP00000299314.7:n.2915+15T>C
ENST00000299314.11:c.2915+15T>C	ENSP00000299314.7:n.2915+15T>C
NM_024312.4:c.2915+15T>C	NP_077288.2:n.2915+15T>C
XM_006719593.2:c.2915+15T>C	XP_006719656.1:n.2915+15T>C
XM_011538731.1:c.2834+15T>C	XP_011537033.1:n.2834+15T>C
XM_006719593.3:c.2915+15T>C	XP_006719656.1:n.2915+15T>C
XM_011538731.2:c.2834+15T>C	XP_011537033.1:n.2834+15T>C
XM_017019961.1:c.2699+15T>C	XP_016875450.1:n.2699+15T>C
XM_017019962.2:c.1688+15T>C	XP_016875451.1:n.1688+15T>C
NM_024312.5:c.2915+15T>C MANE Select	NP_077288.2:n.2915+15T>C