Canonical Allele Identifier: CA6746127

Gene: GNPTAB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3524T>C MANE Select	ENSP00000299314.7:p.Met1175Thr
ENST00000299314.11:c.3524T>C	ENSP00000299314.7:p.Met1175Thr
ENST00000549738.5:c.422T>C	ENSP00000450161.1:n.422T>C
NM_024312.4:c.3524T>C	NP_077288.2:p.Met1175Thr
XM_011538731.1:c.3443T>C	XP_011537033.1:p.Met1148Thr
XM_011538731.2:c.3443T>C	XP_011537033.1:p.Met1148Thr
XM_017019961.1:c.3308T>C	XP_016875450.1:p.Met1103Thr
XM_017019962.2:c.2297T>C	XP_016875451.1:p.Met766Thr
NM_024312.5:c.3524T>C MANE Select	NP_077288.2:p.Met1175Thr