Canonical Allele Identifier: CA242450554

Gene: GNPTAB

Linked Data

• dbSNP Id: rs563459332
• gnomAD v4: 12-101757160-C-G
• MyVariant Identifiers: chr12:g.102150938C>G (hg19) ; chr12:g.101757160C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757160C>G , CM000674.2:g.101757160C>G	GRCh38
NC_000012.11:g.102150938C>G , CM000674.1:g.102150938C>G	GRCh37
NC_000012.10:g.100675069C>G	NCBI36
NG_021243.1:g.78708G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3434+52G>C MANE Select	ENSP00000299314.7:n.3434+52G>C
ENST00000299314.11:c.3434+52G>C	ENSP00000299314.7:n.3434+52G>C
ENST00000549194.1:n.352G>C
ENST00000549738.5:c.185+52G>C	ENSP00000450161.1:n.185+52G>C
ENST00000550718.1:c.246+52G>C
NM_024312.4:c.3434+52G>C	NP_077288.2:n.3434+52G>C
XM_006719593.2:c.3434+52G>C	XP_006719656.1:n.3434+52G>C
XM_011538731.1:c.3353+52G>C	XP_011537033.1:n.3353+52G>C
XM_006719593.3:c.3434+52G>C	XP_006719656.1:n.3434+52G>C
XM_011538731.2:c.3353+52G>C	XP_011537033.1:n.3353+52G>C
XM_017019961.1:c.3218+52G>C	XP_016875450.1:n.3218+52G>C
XM_017019962.2:c.2207+52G>C	XP_016875451.1:n.2207+52G>C
NM_024312.5:c.3434+52G>C MANE Select	NP_077288.2:n.3434+52G>C