Canonical Allele Identifier: CA951190918

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1353431244
• gnomAD v3: 12-101830782-A-G
• gnomAD v4: 12-101830782-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830782A>G , CM000674.2:g.101830782A>G	GRCh38
NC_000012.11:g.102224560A>G , CM000674.1:g.102224560A>G	GRCh37
NC_000012.10:g.100748691A>G	NCBI36
NG_021243.1:g.5086T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-107T>C MANE Select	ENSP00000299314.7:n.-107T>C
ENST00000299314.11:c.-107T>C	ENSP00000299314.7:n.-107T>C
ENST00000392919.4:c.-107T>C	ENSP00000376651.4:n.-107T>C
ENST00000549940.5:c.-107T>C	ENSP00000449150.1:n.-107T>C
NM_024312.4:c.-107T>C	NP_077288.2:n.-107T>C
XM_006719593.2:c.-107T>C	XP_006719656.1:n.-107T>C
XM_006719593.3:c.-107T>C	XP_006719656.1:n.-107T>C
XM_017019961.1:c.-256T>C	XP_016875450.1:n.-256T>C
XM_017019962.2:c.-1457T>C	XP_016875451.1:n.-1457T>C
NM_024312.5:c.-107T>C MANE Select	NP_077288.2:n.-107T>C