Canonical Allele Identifier: CA386304834

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179820A>G (hg19) ; chr12:g.101786042A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786042A>G , CM000674.2:g.101786042A>G	GRCh38
NC_000012.11:g.102179820A>G , CM000674.1:g.102179820A>G	GRCh37
NC_000012.10:g.100703951A>G	NCBI36
NG_021243.1:g.49826T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.541T>C MANE Select	ENSP00000299314.7:p.Ser181Pro
ENST00000299314.11:c.541T>C	ENSP00000299314.7:p.Ser181Pro
ENST00000549940.5:c.541T>C	ENSP00000449150.1:p.Ser181Pro
ENST00000550352.1:n.335T>C
ENST00000552681.1:c.175T>C	ENSP00000449217.1:p.Ser59Pro
NM_024312.4:c.541T>C	NP_077288.2:p.Ser181Pro
XM_006719593.2:c.541T>C	XP_006719656.1:p.Ser181Pro
XM_011538731.1:c.460T>C	XP_011537033.1:p.Ser154Pro
XM_006719593.3:c.541T>C	XP_006719656.1:p.Ser181Pro
XM_011538731.2:c.460T>C	XP_011537033.1:p.Ser154Pro
XM_017019961.1:c.325T>C	XP_016875450.1:p.Ser109Pro
XM_017019962.2:c.-810T>C	XP_016875451.1:n.-810T>C
NM_024312.5:c.541T>C MANE Select	NP_077288.2:p.Ser181Pro