Canonical Allele Identifier: CA6746128

Gene: GNPTAB

Linked Data

• dbSNP Id: rs775626564
• ExAC: 12:102147228 A / C
• gnomAD v2: 12-102147228-A-C
• gnomAD v4: 12-101753450-A-C
• MyVariant Identifiers: chr12:g.102147228A>C (hg19) ; chr12:g.101753450A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753450A>C , CM000674.2:g.101753450A>C	GRCh38
NC_000012.11:g.102147228A>C , CM000674.1:g.102147228A>C	GRCh37
NC_000012.10:g.100671359A>C	NCBI36
NG_021243.1:g.82418T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3524T>G MANE Select	ENSP00000299314.7:p.Met1175Arg
ENST00000299314.11:c.3524T>G	ENSP00000299314.7:p.Met1175Arg
ENST00000549738.5:c.422T>G	ENSP00000450161.1:n.422T>G
NM_024312.4:c.3524T>G	NP_077288.2:p.Met1175Arg
XM_011538731.1:c.3443T>G	XP_011537033.1:p.Met1148Arg
XM_011538731.2:c.3443T>G	XP_011537033.1:p.Met1148Arg
XM_017019961.1:c.3308T>G	XP_016875450.1:p.Met1103Arg
XM_017019962.2:c.2297T>G	XP_016875451.1:p.Met766Arg
NM_024312.5:c.3524T>G MANE Select	NP_077288.2:p.Met1175Arg