Canonical Allele Identifier: CA386486903

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 522908
• ClinVar RCV Id: RCV000626103
• dbSNP Id: rs1555277061
• MyVariant Identifiers: chr12:g.102224354C>G (hg19) ; chr12:g.101830576C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830576C>G , CM000674.2:g.101830576C>G	GRCh38
NC_000012.11:g.102224354C>G , CM000674.1:g.102224354C>G	GRCh37
NC_000012.10:g.100748485C>G	NCBI36
NG_021243.1:g.5292G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.100G>C MANE Select	ENSP00000299314.7:p.Ala34Pro
ENST00000647144.1:n.88G>C
ENST00000299314.11:c.100G>C	ENSP00000299314.7:p.Ala34Pro
ENST00000392919.4:c.100G>C	ENSP00000376651.4:p.Ala34Pro
ENST00000549165.1:c.100G>C	ENSP00000450413.1:p.Ala34Pro
ENST00000549940.5:c.100G>C	ENSP00000449150.1:p.Ala34Pro
NM_024312.4:c.100G>C	NP_077288.2:p.Ala34Pro
XM_006719593.2:c.100G>C	XP_006719656.1:p.Ala34Pro
XM_006719593.3:c.100G>C	XP_006719656.1:p.Ala34Pro
XM_017019961.1:c.-100+50G>C	XP_016875450.1:n.-100+50G>C
XM_017019962.2:c.-1251G>C	XP_016875451.1:n.-1251G>C
NM_024312.5:c.100G>C MANE Select	NP_077288.2:p.Ala34Pro