Canonical Allele Identifier: CA2620427348

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101757566-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757566A>G , CM000674.2:g.101757566A>G	GRCh38
NC_000012.11:g.102151344A>G , CM000674.1:g.102151344A>G	GRCh37
NC_000012.10:g.100675475A>G	NCBI36
NG_021243.1:g.78302T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3335+6T>C MANE Select	ENSP00000299314.7:n.3335+6T>C
ENST00000299314.11:c.3335+6T>C	ENSP00000299314.7:n.3335+6T>C
ENST00000549194.1:n.201+6T>C
ENST00000549738.5:c.86+6T>C	ENSP00000450161.1:n.86+6T>C
ENST00000550718.1:c.147+6T>C
NM_024312.4:c.3335+6T>C	NP_077288.2:n.3335+6T>C
XM_006719593.2:c.3335+6T>C	XP_006719656.1:n.3335+6T>C
XM_011538731.1:c.3254+6T>C	XP_011537033.1:n.3254+6T>C
XM_006719593.3:c.3335+6T>C	XP_006719656.1:n.3335+6T>C
XM_011538731.2:c.3254+6T>C	XP_011537033.1:n.3254+6T>C
XM_017019961.1:c.3119+6T>C	XP_016875450.1:n.3119+6T>C
XM_017019962.2:c.2108+6T>C	XP_016875451.1:n.2108+6T>C
NM_024312.5:c.3335+6T>C MANE Select	NP_077288.2:n.3335+6T>C