Canonical Allele Identifier: CA386295885

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761271A>C , CM000674.2:g.101761271A>C	GRCh38
NC_000012.11:g.102155049A>C , CM000674.1:g.102155049A>C	GRCh37
NC_000012.10:g.100679180A>C	NCBI36
NG_021243.1:g.74597T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.2991T>G MANE Select	NP_077288.2:p.Tyr997Ter
ENST00000299314.12:c.2991T>G MANE Select	ENSP00000299314.7:p.Tyr997Ter
NM_024312.4:c.2991T>G	NP_077288.2:p.Tyr997Ter
ENST00000299314.11:c.2991T>G	ENSP00000299314.7:p.Tyr997Ter
XM_006719593.2:c.2991T>G	XP_006719656.1:p.Tyr997Ter
XM_006719593.3:c.2991T>G	XP_006719656.1:p.Tyr997Ter
XM_011538731.1:c.2910T>G	XP_011537033.1:p.Tyr970Ter
XM_011538731.2:c.2910T>G	XP_011537033.1:p.Tyr970Ter
XM_017019961.1:c.2775T>G	XP_016875450.1:p.Tyr925Ter
XM_017019962.2:c.1764T>G	XP_016875451.1:p.Tyr588Ter