Canonical Allele Identifier: CA951172480

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952920178
• gnomAD v3: 12-101757535-T-TTA
• gnomAD v4: 12-101757535-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757538_101757539dup , CM000674.2:g.101757538_101757539dup	GRCh38
NC_000012.11:g.102151316_102151317dup , CM000674.1:g.102151316_102151317dup	GRCh37
NC_000012.10:g.100675447_100675448dup	NCBI36
NG_021243.1:g.78331_78332dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3335+35_3335+36dup MANE Select	ENSP00000299314.7:n.3335+35_3335+36dup
ENST00000299314.11:c.3335+35_3335+36dup	ENSP00000299314.7:n.3335+35_3335+36dup
ENST00000549194.1:n.201+35_201+36dup
ENST00000549738.5:c.86+35_86+36dup	ENSP00000450161.1:n.86+35_86+36dup
ENST00000550718.1:c.147+35_147+36dup
NM_024312.4:c.3335+35_3335+36dup	NP_077288.2:n.3335+35_3335+36dup
XM_006719593.2:c.3335+35_3335+36dup	XP_006719656.1:n.3335+35_3335+36dup
XM_011538731.1:c.3254+35_3254+36dup	XP_011537033.1:n.3254+35_3254+36dup
XM_006719593.3:c.3335+35_3335+36dup	XP_006719656.1:n.3335+35_3335+36dup
XM_011538731.2:c.3254+35_3254+36dup	XP_011537033.1:n.3254+35_3254+36dup
XM_017019961.1:c.3119+35_3119+36dup	XP_016875450.1:n.3119+35_3119+36dup
XM_017019962.2:c.2108+35_2108+36dup	XP_016875451.1:n.2108+35_2108+36dup
NM_024312.5:c.3335+35_3335+36dup MANE Select	NP_077288.2:n.3335+35_3335+36dup