Canonical Allele Identifier: CA386294866

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101760116-T-G
• MyVariant Identifiers: chr12:g.102153894T>G (hg19) ; chr12:g.101760116T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760116T>G , CM000674.2:g.101760116T>G	GRCh38
NC_000012.11:g.102153894T>G , CM000674.1:g.102153894T>G	GRCh37
NC_000012.10:g.100678025T>G	NCBI36
NG_021243.1:g.75752A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3163A>C MANE Select	ENSP00000299314.7:p.Ile1055Leu
ENST00000299314.11:c.3163A>C	ENSP00000299314.7:p.Ile1055Leu
ENST00000549194.1:n.29A>C
NM_024312.4:c.3163A>C	NP_077288.2:p.Ile1055Leu
XM_006719593.2:c.3163A>C	XP_006719656.1:p.Ile1055Leu
XM_011538731.1:c.3082A>C	XP_011537033.1:p.Ile1028Leu
XM_006719593.3:c.3163A>C	XP_006719656.1:p.Ile1055Leu
XM_011538731.2:c.3082A>C	XP_011537033.1:p.Ile1028Leu
XM_017019961.1:c.2947A>C	XP_016875450.1:p.Ile983Leu
XM_017019962.2:c.1936A>C	XP_016875451.1:p.Ile646Leu
NM_024312.5:c.3163A>C MANE Select	NP_077288.2:p.Ile1055Leu