Canonical Allele Identifier: CA386295392

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102154990A>G (hg19) ; chr12:g.101761212A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761212A>G , CM000674.2:g.101761212A>G	GRCh38
NC_000012.11:g.102154990A>G , CM000674.1:g.102154990A>G	GRCh37
NC_000012.10:g.100679121A>G	NCBI36
NG_021243.1:g.74656T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3050T>C MANE Select	ENSP00000299314.7:p.Val1017Ala
ENST00000299314.11:c.3050T>C	ENSP00000299314.7:p.Val1017Ala
NM_024312.4:c.3050T>C	NP_077288.2:p.Val1017Ala
XM_006719593.2:c.3050T>C	XP_006719656.1:p.Val1017Ala
XM_011538731.1:c.2969T>C	XP_011537033.1:p.Val990Ala
XM_006719593.3:c.3050T>C	XP_006719656.1:p.Val1017Ala
XM_011538731.2:c.2969T>C	XP_011537033.1:p.Val990Ala
XM_017019961.1:c.2834T>C	XP_016875450.1:p.Val945Ala
XM_017019962.2:c.1823T>C	XP_016875451.1:p.Val608Ala
NM_024312.5:c.3050T>C MANE Select	NP_077288.2:p.Val1017Ala