Canonical Allele Identifier: CA386294641

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101760059-T-G
• MyVariant Identifiers: chr12:g.102153837T>G (hg19) ; chr12:g.101760059T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760059T>G , CM000674.2:g.101760059T>G	GRCh38
NC_000012.11:g.102153837T>G , CM000674.1:g.102153837T>G	GRCh37
NC_000012.10:g.100677968T>G	NCBI36
NG_021243.1:g.75809A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3220A>C MANE Select	ENSP00000299314.7:p.Thr1074Pro
ENST00000299314.11:c.3220A>C	ENSP00000299314.7:p.Thr1074Pro
ENST00000549194.1:n.86A>C
ENST00000550718.1:c.32A>C
NM_024312.4:c.3220A>C	NP_077288.2:p.Thr1074Pro
XM_006719593.2:c.3220A>C	XP_006719656.1:p.Thr1074Pro
XM_011538731.1:c.3139A>C	XP_011537033.1:p.Thr1047Pro
XM_006719593.3:c.3220A>C	XP_006719656.1:p.Thr1074Pro
XM_011538731.2:c.3139A>C	XP_011537033.1:p.Thr1047Pro
XM_017019961.1:c.3004A>C	XP_016875450.1:p.Thr1002Pro
XM_017019962.2:c.1993A>C	XP_016875451.1:p.Thr665Pro
NM_024312.5:c.3220A>C MANE Select	NP_077288.2:p.Thr1074Pro