Canonical Allele Identifier: CA386294577

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101760031-A-G
• MyVariant Identifiers: chr12:g.102153809A>G (hg19) ; chr12:g.101760031A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760031A>G , CM000674.2:g.101760031A>G	GRCh38
NC_000012.11:g.102153809A>G , CM000674.1:g.102153809A>G	GRCh37
NC_000012.10:g.100677940A>G	NCBI36
NG_021243.1:g.75837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3248T>C MANE Select	ENSP00000299314.7:p.Leu1083Pro
ENST00000299314.11:c.3248T>C	ENSP00000299314.7:p.Leu1083Pro
ENST00000549194.1:n.114T>C
ENST00000550718.1:c.60T>C
NM_024312.4:c.3248T>C	NP_077288.2:p.Leu1083Pro
XM_006719593.2:c.3248T>C	XP_006719656.1:p.Leu1083Pro
XM_011538731.1:c.3167T>C	XP_011537033.1:p.Leu1056Pro
XM_006719593.3:c.3248T>C	XP_006719656.1:p.Leu1083Pro
XM_011538731.2:c.3167T>C	XP_011537033.1:p.Leu1056Pro
XM_017019961.1:c.3032T>C	XP_016875450.1:p.Leu1011Pro
XM_017019962.2:c.2021T>C	XP_016875451.1:p.Leu674Pro
NM_024312.5:c.3248T>C MANE Select	NP_077288.2:p.Leu1083Pro