Canonical Allele Identifier: CA6746130

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 306795
• ClinVar RCV Id: RCV000289094 ; RCV000383475 ; RCV000918455
• dbSNP Id: rs201592854
• ExAC: 12:102147236 A / G
• gnomAD v2: 12-102147236-A-G
• gnomAD v3: 12-101753458-A-G
• gnomAD v4: 12-101753458-A-G
• MyVariant Identifiers: chr12:g.102147236A>G (hg19) ; chr12:g.101753458A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753458A>G , CM000674.2:g.101753458A>G	GRCh38
NC_000012.11:g.102147236A>G , CM000674.1:g.102147236A>G	GRCh37
NC_000012.10:g.100671367A>G	NCBI36
NG_021243.1:g.82410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3516T>C MANE Select	ENSP00000299314.7:p.Tyr1172=
ENST00000299314.11:c.3516T>C	ENSP00000299314.7:p.Tyr1172=
ENST00000549738.5:c.414T>C	ENSP00000450161.1:n.414T>C
NM_024312.4:c.3516T>C	NP_077288.2:p.Tyr1172=
XM_011538731.1:c.3435T>C	XP_011537033.1:p.Tyr1145=
XM_011538731.2:c.3435T>C	XP_011537033.1:p.Tyr1145=
XM_017019961.1:c.3300T>C	XP_016875450.1:p.Tyr1100=
XM_017019962.2:c.2289T>C	XP_016875451.1:p.Tyr763=
NM_024312.5:c.3516T>C MANE Select	NP_077288.2:p.Tyr1172=