Canonical Allele Identifier: CA6747024

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 306823
• ClinVar RCV Id: RCV000313903 ; RCV000406859 ; RCV000933152
• dbSNP Id: rs376257286
• ExAC: 12:102224412 C / G
• gnomAD v2: 12-102224412-C-G
• gnomAD v3: 12-101830634-C-G
• gnomAD v4: 12-101830634-C-G
• MyVariant Identifiers: chr12:g.102224412C>G (hg19) ; chr12:g.101830634C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830634C>G , CM000674.2:g.101830634C>G	GRCh38
NC_000012.11:g.102224412C>G , CM000674.1:g.102224412C>G	GRCh37
NC_000012.10:g.100748543C>G	NCBI36
NG_021243.1:g.5234G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.42G>C MANE Select	ENSP00000299314.7:p.Leu14=
ENST00000647144.1:n.30G>C
ENST00000299314.11:c.42G>C	ENSP00000299314.7:p.Leu14=
ENST00000392919.4:c.42G>C	ENSP00000376651.4:p.Leu14=
ENST00000549165.1:c.42G>C	ENSP00000450413.1:p.Leu14=
ENST00000549940.5:c.42G>C	ENSP00000449150.1:p.Leu14=
NM_024312.4:c.42G>C	NP_077288.2:p.Leu14=
XM_006719593.2:c.42G>C	XP_006719656.1:p.Leu14=
XM_006719593.3:c.42G>C	XP_006719656.1:p.Leu14=
XM_017019961.1:c.-108G>C	XP_016875450.1:n.-108G>C
XM_017019962.2:c.-1309G>C	XP_016875451.1:n.-1309G>C
NM_024312.5:c.42G>C MANE Select	NP_077288.2:p.Leu14=