Canonical Allele Identifier: CA2620427627

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101757663-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757663A>G , CM000674.2:g.101757663A>G	GRCh38
NC_000012.11:g.102151441A>G , CM000674.1:g.102151441A>G	GRCh37
NC_000012.10:g.100675572A>G	NCBI36
NG_021243.1:g.78205T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3250-6T>C MANE Select	ENSP00000299314.7:n.3250-6T>C
ENST00000299314.11:c.3250-6T>C	ENSP00000299314.7:n.3250-6T>C
ENST00000549194.1:n.116-6T>C
ENST00000550718.1:c.62-6T>C
NM_024312.4:c.3250-6T>C	NP_077288.2:n.3250-6T>C
XM_006719593.2:c.3250-6T>C	XP_006719656.1:n.3250-6T>C
XM_011538731.1:c.3169-6T>C	XP_011537033.1:n.3169-6T>C
XM_006719593.3:c.3250-6T>C	XP_006719656.1:n.3250-6T>C
XM_011538731.2:c.3169-6T>C	XP_011537033.1:n.3169-6T>C
XM_017019961.1:c.3034-6T>C	XP_016875450.1:n.3034-6T>C
XM_017019962.2:c.2023-6T>C	XP_016875451.1:n.2023-6T>C
NM_024312.5:c.3250-6T>C MANE Select	NP_077288.2:n.3250-6T>C