Canonical Allele Identifier: CA6746575

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 496802
• ClinVar RCV Id: RCV000595201 ; RCV000675290
• dbSNP Id: rs74389509
• ExAC: 12:102159841 A / G
• gnomAD v2: 12-102159841-A-G
• gnomAD v3: 12-101766063-A-G
• gnomAD v4: 12-101766063-A-G
• MyVariant Identifiers: chr12:g.102159841A>G (hg19) ; chr12:g.101766063A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101766063A>G , CM000674.2:g.101766063A>G	GRCh38
NC_000012.11:g.102159841A>G , CM000674.1:g.102159841A>G	GRCh37
NC_000012.10:g.100683972A>G	NCBI36
NG_021243.1:g.69805T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1612+28T>C MANE Select	ENSP00000299314.7:n.1612+28T>C
ENST00000299314.11:c.1612+28T>C	ENSP00000299314.7:n.1612+28T>C
ENST00000552009.1:n.299T>C
NM_024312.4:c.1612+28T>C	NP_077288.2:n.1612+28T>C
XM_006719593.2:c.1612+28T>C	XP_006719656.1:n.1612+28T>C
XM_011538731.1:c.1531+28T>C	XP_011537033.1:n.1531+28T>C
XM_006719593.3:c.1612+28T>C	XP_006719656.1:n.1612+28T>C
XM_011538731.2:c.1531+28T>C	XP_011537033.1:n.1531+28T>C
XM_017019961.1:c.1396+28T>C	XP_016875450.1:n.1396+28T>C
XM_017019962.2:c.385+28T>C	XP_016875451.1:n.385+28T>C
NM_024312.5:c.1612+28T>C MANE Select	NP_077288.2:n.1612+28T>C