Canonical Allele Identifier: CA242450537

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1040081337
• gnomAD v4: 12-101757151-T-C
• MyVariant Identifiers: chr12:g.102150929T>C (hg19) ; chr12:g.101757151T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757151T>C , CM000674.2:g.101757151T>C	GRCh38
NC_000012.11:g.102150929T>C , CM000674.1:g.102150929T>C	GRCh37
NC_000012.10:g.100675060T>C	NCBI36
NG_021243.1:g.78717A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3434+61A>G MANE Select	ENSP00000299314.7:n.3434+61A>G
ENST00000299314.11:c.3434+61A>G	ENSP00000299314.7:n.3434+61A>G
ENST00000549194.1:n.361A>G
ENST00000549738.5:c.185+61A>G	ENSP00000450161.1:n.185+61A>G
ENST00000550718.1:c.246+61A>G
NM_024312.4:c.3434+61A>G	NP_077288.2:n.3434+61A>G
XM_006719593.2:c.3434+61A>G	XP_006719656.1:n.3434+61A>G
XM_011538731.1:c.3353+61A>G	XP_011537033.1:n.3353+61A>G
XM_006719593.3:c.3434+61A>G	XP_006719656.1:n.3434+61A>G
XM_011538731.2:c.3353+61A>G	XP_011537033.1:n.3353+61A>G
XM_017019961.1:c.3218+61A>G	XP_016875450.1:n.3218+61A>G
XM_017019962.2:c.2207+61A>G	XP_016875451.1:n.2207+61A>G
NM_024312.5:c.3434+61A>G MANE Select	NP_077288.2:n.3434+61A>G