Canonical Allele Identifier: CA6746849

Gene: GNPTAB

Linked Data

• dbSNP Id: rs745701869
• ExAC: 12:102179749 A / G
• gnomAD v2: 12-102179749-A-G
• gnomAD v4: 12-101785971-A-G
• MyVariant Identifiers: chr12:g.102179749A>G (hg19) ; chr12:g.101785971A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785971A>G , CM000674.2:g.101785971A>G	GRCh38
NC_000012.11:g.102179749A>G , CM000674.1:g.102179749A>G	GRCh37
NC_000012.10:g.100703880A>G	NCBI36
NG_021243.1:g.49897T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+41T>C MANE Select	ENSP00000299314.7:n.571+41T>C
ENST00000299314.11:c.571+41T>C	ENSP00000299314.7:n.571+41T>C
ENST00000549940.5:c.571+41T>C	ENSP00000449150.1:n.571+41T>C
ENST00000550352.1:n.406T>C
ENST00000552681.1:c.205+41T>C	ENSP00000449217.1:n.205+41T>C
NM_024312.4:c.571+41T>C	NP_077288.2:n.571+41T>C
XM_006719593.2:c.571+41T>C	XP_006719656.1:n.571+41T>C
XM_011538731.1:c.490+41T>C	XP_011537033.1:n.490+41T>C
XM_006719593.3:c.571+41T>C	XP_006719656.1:n.571+41T>C
XM_011538731.2:c.490+41T>C	XP_011537033.1:n.490+41T>C
XM_017019961.1:c.355+41T>C	XP_016875450.1:n.355+41T>C
XM_017019962.2:c.-780+41T>C	XP_016875451.1:n.-780+41T>C
NM_024312.5:c.571+41T>C MANE Select	NP_077288.2:n.571+41T>C