Canonical Allele Identifier: CA396873098

Gene: GAN

Linked Data

• ClinVar Variation Id: 1764127
• ClinVar RCV Id: RCV002449618
• gnomAD v4: 16-81357821-C-T
• MyVariant Identifiers: chr16:g.81391426C>T (hg19) ; chr16:g.81357821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357821C>T , CM000678.2:g.81357821C>T	GRCh38
NC_000016.9:g.81391426C>T , CM000678.1:g.81391426C>T	GRCh37
NC_000016.8:g.79948927C>T	NCBI36
NG_009007.1:g.47856C>T , LRG_242:g.47856C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*571C>T	ENSP00000498114.1:n.*571C>T
ENST00000648994.2:c.863C>T MANE Select	ENSP00000497351.1:p.Pro288Leu
ENST00000650388.1:c.397C>T	ENSP00000498081.1:n.397C>T
ENST00000568107.2:c.863C>T	ENSP00000476795.1:p.Pro288Leu
NM_022041.3:c.863C>T , LRG_242t1:c.863C>T	NP_071324.1:p.Pro288Leu
XM_017023734.1:c.224C>T	XP_016879223.1:p.Pro75Leu
NM_001377486.1:c.224C>T	NP_001364415.1:p.Pro75Leu
NM_022041.4:c.863C>T MANE Select	NP_071324.1:p.Pro288Leu