Canonical Allele Identifier: CA2727001709

Gene: GNPTAB

Linked Data

• dbSNP Id: rs2137106473

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757166T>G , CM000674.2:g.101757166T>G	GRCh38
NC_000012.11:g.102150944T>G , CM000674.1:g.102150944T>G	GRCh37
NC_000012.10:g.100675075T>G	NCBI36
NG_021243.1:g.78702A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3434+46A>C MANE Select	ENSP00000299314.7:n.3434+46A>C
ENST00000299314.11:c.3434+46A>C	ENSP00000299314.7:n.3434+46A>C
ENST00000549194.1:n.346A>C
ENST00000549738.5:c.185+46A>C	ENSP00000450161.1:n.185+46A>C
ENST00000550718.1:c.246+46A>C
NM_024312.4:c.3434+46A>C	NP_077288.2:n.3434+46A>C
XM_006719593.2:c.3434+46A>C	XP_006719656.1:n.3434+46A>C
XM_011538731.1:c.3353+46A>C	XP_011537033.1:n.3353+46A>C
XM_006719593.3:c.3434+46A>C	XP_006719656.1:n.3434+46A>C
XM_011538731.2:c.3353+46A>C	XP_011537033.1:n.3353+46A>C
XM_017019961.1:c.3218+46A>C	XP_016875450.1:n.3218+46A>C
XM_017019962.2:c.2207+46A>C	XP_016875451.1:n.2207+46A>C
NM_024312.5:c.3434+46A>C MANE Select	NP_077288.2:n.3434+46A>C