Canonical Allele Identifier: CA496698924

Gene: GAN

Linked Data

• ClinVar Variation Id: 2107053
• ClinVar RCV Id: RCV003045524
• MyVariant Identifiers: chr16:g.81391454T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357849T>G , CM000678.2:g.81357849T>G	GRCh38
NC_000016.9:g.81391454T>G , CM000678.1:g.81391454T>G	GRCh37
NC_000016.8:g.79948955T>G	NCBI36
NG_009007.1:g.47884T>G , LRG_242:g.47884T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*599T>G	ENSP00000498114.1:n.*599T>G
ENST00000648994.2:c.891T>G MANE Select	ENSP00000497351.1:p.Pro297=
ENST00000650388.1:c.425T>G	ENSP00000498081.1:n.425T>G
ENST00000568107.2:c.891T>G	ENSP00000476795.1:p.Pro297=
NM_022041.3:c.891T>G , LRG_242t1:c.891T>G	NP_071324.1:p.Pro297=
XM_017023734.1:c.252T>G	XP_016879223.1:p.Pro84=
NM_001377486.1:c.252T>G	NP_001364415.1:p.Pro84=
NM_022041.4:c.891T>G MANE Select	NP_071324.1:p.Pro297=