Canonical Allele Identifier: CA386294634

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101760055-T-G
• MyVariant Identifiers: chr12:g.102153833T>G (hg19) ; chr12:g.101760055T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760055T>G , CM000674.2:g.101760055T>G	GRCh38
NC_000012.11:g.102153833T>G , CM000674.1:g.102153833T>G	GRCh37
NC_000012.10:g.100677964T>G	NCBI36
NG_021243.1:g.75813A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3224A>C MANE Select	ENSP00000299314.7:p.Gln1075Pro
ENST00000299314.11:c.3224A>C	ENSP00000299314.7:p.Gln1075Pro
ENST00000549194.1:n.90A>C
ENST00000550718.1:c.36A>C
NM_024312.4:c.3224A>C	NP_077288.2:p.Gln1075Pro
XM_006719593.2:c.3224A>C	XP_006719656.1:p.Gln1075Pro
XM_011538731.1:c.3143A>C	XP_011537033.1:p.Gln1048Pro
XM_006719593.3:c.3224A>C	XP_006719656.1:p.Gln1075Pro
XM_011538731.2:c.3143A>C	XP_011537033.1:p.Gln1048Pro
XM_017019961.1:c.3008A>C	XP_016875450.1:p.Gln1003Pro
XM_017019962.2:c.1997A>C	XP_016875451.1:p.Gln666Pro
NM_024312.5:c.3224A>C MANE Select	NP_077288.2:p.Gln1075Pro