Canonical Allele Identifier: CA6746231

Gene: GNPTAB

Linked Data

• dbSNP Id: rs753813157
• ExAC: 12:102153821 T / C
• gnomAD v2: 12-102153821-T-C
• gnomAD v3: 12-101760043-T-C
• gnomAD v4: 12-101760043-T-C
• MyVariant Identifiers: chr12:g.102153821T>C (hg19) ; chr12:g.101760043T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760043T>C , CM000674.2:g.101760043T>C	GRCh38
NC_000012.11:g.102153821T>C , CM000674.1:g.102153821T>C	GRCh37
NC_000012.10:g.100677952T>C	NCBI36
NG_021243.1:g.75825A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3236A>G MANE Select	ENSP00000299314.7:p.Tyr1079Cys
ENST00000299314.11:c.3236A>G	ENSP00000299314.7:p.Tyr1079Cys
ENST00000549194.1:n.102A>G
ENST00000550718.1:c.48A>G
NM_024312.4:c.3236A>G	NP_077288.2:p.Tyr1079Cys
XM_006719593.2:c.3236A>G	XP_006719656.1:p.Tyr1079Cys
XM_011538731.1:c.3155A>G	XP_011537033.1:p.Tyr1052Cys
XM_006719593.3:c.3236A>G	XP_006719656.1:p.Tyr1079Cys
XM_011538731.2:c.3155A>G	XP_011537033.1:p.Tyr1052Cys
XM_017019961.1:c.3020A>G	XP_016875450.1:p.Tyr1007Cys
XM_017019962.2:c.2009A>G	XP_016875451.1:p.Tyr670Cys
NM_024312.5:c.3236A>G MANE Select	NP_077288.2:p.Tyr1079Cys