Canonical Allele Identifier: CA6746757

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2927431
• ClinVar RCV Id: RCV003784061
• dbSNP Id: rs757135986
• ExAC: 12:102164757 T / G
• gnomAD v2: 12-102164757-T-G
• gnomAD v3: 12-101770979-T-G
• gnomAD v4: 12-101770979-T-G
• MyVariant Identifiers: chr12:g.102164757T>G (hg19) ; chr12:g.101770979T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770979T>G , CM000674.2:g.101770979T>G	GRCh38
NC_000012.11:g.102164757T>G , CM000674.1:g.102164757T>G	GRCh37
NC_000012.10:g.100688888T>G	NCBI36
NG_021243.1:g.64889A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.933+17A>C MANE Select	ENSP00000299314.7:n.933+17A>C
ENST00000299314.11:c.933+17A>C	ENSP00000299314.7:n.933+17A>C
ENST00000549940.5:c.933+17A>C	ENSP00000449150.1:n.933+17A>C
NM_024312.4:c.933+17A>C	NP_077288.2:n.933+17A>C
XM_006719593.2:c.933+17A>C	XP_006719656.1:n.933+17A>C
XM_011538731.1:c.852+17A>C	XP_011537033.1:n.852+17A>C
XM_006719593.3:c.933+17A>C	XP_006719656.1:n.933+17A>C
XM_011538731.2:c.852+17A>C	XP_011537033.1:n.852+17A>C
XM_017019961.1:c.717+17A>C	XP_016875450.1:n.717+17A>C
XM_017019962.2:c.-418+17A>C	XP_016875451.1:n.-418+17A>C
NM_024312.5:c.933+17A>C MANE Select	NP_077288.2:n.933+17A>C