Canonical Allele Identifier: CA386302465

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101770061-A-G
• MyVariant Identifiers: chr12:g.102163839A>G (hg19) ; chr12:g.101770061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770061A>G , CM000674.2:g.101770061A>G	GRCh38
NC_000012.11:g.102163839A>G , CM000674.1:g.102163839A>G	GRCh37
NC_000012.10:g.100687970A>G	NCBI36
NG_021243.1:g.65807T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1244T>C MANE Select	ENSP00000299314.7:p.Val415Ala
ENST00000299314.11:c.1244T>C	ENSP00000299314.7:p.Val415Ala
ENST00000549940.5:c.1244T>C	ENSP00000449150.1:p.Val415Ala
NM_024312.4:c.1244T>C	NP_077288.2:p.Val415Ala
XM_006719593.2:c.1244T>C	XP_006719656.1:p.Val415Ala
XM_011538731.1:c.1163T>C	XP_011537033.1:p.Val388Ala
XM_006719593.3:c.1244T>C	XP_006719656.1:p.Val415Ala
XM_011538731.2:c.1163T>C	XP_011537033.1:p.Val388Ala
XM_017019961.1:c.1028T>C	XP_016875450.1:p.Val343Ala
XM_017019962.2:c.17T>C	XP_016875451.1:p.Val6Ala
NM_024312.5:c.1244T>C MANE Select	NP_077288.2:p.Val415Ala