Canonical Allele Identifier: CA6747042

Gene: GNPTAB

Linked Data

• dbSNP Id: rs778784398
• ExAC: 12:102224482 A / C
• gnomAD v2: 12-102224482-A-C
• gnomAD v3: 12-101830704-A-C
• gnomAD v4: 12-101830704-A-C
• MyVariant Identifiers: chr12:g.102224482A>C (hg19) ; chr12:g.101830704A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830704A>C , CM000674.2:g.101830704A>C	GRCh38
NC_000012.11:g.102224482A>C , CM000674.1:g.102224482A>C	GRCh37
NC_000012.10:g.100748613A>C	NCBI36
NG_021243.1:g.5164T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-29T>G MANE Select	ENSP00000299314.7:n.-29T>G
ENST00000299314.11:c.-29T>G	ENSP00000299314.7:n.-29T>G
ENST00000392919.4:c.-29T>G	ENSP00000376651.4:n.-29T>G
ENST00000549940.5:c.-29T>G	ENSP00000449150.1:n.-29T>G
NM_024312.4:c.-29T>G	NP_077288.2:n.-29T>G
XM_006719593.2:c.-29T>G	XP_006719656.1:n.-29T>G
XM_006719593.3:c.-29T>G	XP_006719656.1:n.-29T>G
XM_017019961.1:c.-178T>G	XP_016875450.1:n.-178T>G
XM_017019962.2:c.-1379T>G	XP_016875451.1:n.-1379T>G
NM_024312.5:c.-29T>G MANE Select	NP_077288.2:n.-29T>G