Canonical Allele Identifier: CA396869004

Gene: GAN

Linked Data

• ClinVar Variation Id: 571998
• ClinVar RCV Id: RCV000693283
• dbSNP Id: rs201884522
• MyVariant Identifiers: chr16:g.81388291C>G (hg19) ; chr16:g.81354686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354686C>G , CM000678.2:g.81354686C>G	GRCh38
NC_000016.9:g.81388291C>G , CM000678.1:g.81388291C>G	GRCh37
NC_000016.8:g.79945792C>G	NCBI36
NG_009007.1:g.44721C>G , LRG_242:g.44721C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*272C>G	ENSP00000498114.1:n.*272C>G
ENST00000648994.2:c.564C>G MANE Select	ENSP00000497351.1:p.Asn188Lys
ENST00000650388.1:c.168-2099C>G	ENSP00000498081.1:n.168-2099C>G
ENST00000674788.1:n.689C>G
ENST00000568107.2:c.564C>G	ENSP00000476795.1:p.Asn188Lys
NM_022041.3:c.564C>G , LRG_242t1:c.564C>G	NP_071324.1:p.Asn188Lys
XM_017023734.1:c.-76C>G	XP_016879223.1:n.-76C>G
NM_001377486.1:c.-76C>G	NP_001364415.1:n.-76C>G
NM_022041.4:c.564C>G MANE Select	NP_071324.1:p.Asn188Lys