Canonical Allele Identifier: CA242319200

Gene: GNPTAB

Linked Data

• dbSNP Id: rs928563535
• gnomAD v3: 12-101830444-G-A
• gnomAD v4: 12-101830444-G-A
• MyVariant Identifiers: chr12:g.102224222G>A (hg19) ; chr12:g.101830444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830444G>A , CM000674.2:g.101830444G>A	GRCh38
NC_000012.11:g.102224222G>A , CM000674.1:g.102224222G>A	GRCh37
NC_000012.10:g.100748353G>A	NCBI36
NG_021243.1:g.5424C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.117+115C>T MANE Select	ENSP00000299314.7:n.117+115C>T
ENST00000647144.1:n.105+115C>T
ENST00000299314.11:c.117+115C>T	ENSP00000299314.7:n.117+115C>T
ENST00000392919.4:c.117+115C>T	ENSP00000376651.4:n.117+115C>T
ENST00000549165.1:c.117+115C>T	ENSP00000450413.1:n.117+115C>T
ENST00000549940.5:c.117+115C>T	ENSP00000449150.1:n.117+115C>T
NM_024312.4:c.117+115C>T	NP_077288.2:n.117+115C>T
XM_006719593.2:c.117+115C>T	XP_006719656.1:n.117+115C>T
XM_006719593.3:c.117+115C>T	XP_006719656.1:n.117+115C>T
XM_017019961.1:c.-100+182C>T	XP_016875450.1:n.-100+182C>T
XM_017019962.2:c.-1234+115C>T	XP_016875451.1:n.-1234+115C>T
NM_024312.5:c.117+115C>T MANE Select	NP_077288.2:n.117+115C>T