Canonical Allele Identifier: CA284303895

Gene: GAN

Linked Data

• dbSNP Id: rs537441172
• gnomAD v2: 16-81388458-C-T
• gnomAD v3: 16-81354853-C-T
• gnomAD v4: 16-81354853-C-T
• MyVariant Identifiers: chr16:g.81388458C>T (hg19) ; chr16:g.81354853C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354853C>T , CM000678.2:g.81354853C>T	GRCh38
NC_000016.9:g.81388458C>T , CM000678.1:g.81388458C>T	GRCh37
NC_000016.8:g.79945959C>T	NCBI36
NG_009007.1:g.44888C>T , LRG_242:g.44888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*341+98C>T	ENSP00000498114.1:n.*341+98C>T
ENST00000648994.2:c.633+98C>T MANE Select	ENSP00000497351.1:n.633+98C>T
ENST00000650388.1:c.168-1932C>T	ENSP00000498081.1:n.168-1932C>T
ENST00000674788.1:n.856C>T
ENST00000568107.2:c.633+98C>T	ENSP00000476795.1:n.633+98C>T
NM_022041.3:c.633+98C>T , LRG_242t1:c.633+98C>T	NP_071324.1:n.633+98C>T
XM_017023734.1:c.-7+98C>T	XP_016879223.1:n.-7+98C>T
NM_001377486.1:c.-7+98C>T	NP_001364415.1:n.-7+98C>T
NM_022041.4:c.633+98C>T MANE Select	NP_071324.1:n.633+98C>T