Canonical Allele Identifier: CA623737855

Gene: GAN

Linked Data

• dbSNP Id: rs776058780
• gnomAD v2: 16-81398931-A-C
• gnomAD v4: 16-81365326-A-C
• MyVariant Identifiers: chr16:g.81398931A>C (hg19) ; chr16:g.81365326A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365326A>C , CM000678.2:g.81365326A>C	GRCh38
NC_000016.9:g.81398931A>C , CM000678.1:g.81398931A>C	GRCh37
NC_000016.8:g.79956432A>C	NCBI36
NG_009007.1:g.55361A>C , LRG_242:g.55361A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*1082-24A>C	ENSP00000498114.1:n.*1082-24A>C
ENST00000648994.2:c.1374-24A>C MANE Select	ENSP00000497351.1:n.1374-24A>C
ENST00000650388.1:c.908-24A>C	ENSP00000498081.1:n.908-24A>C
ENST00000568107.2:c.1374-24A>C	ENSP00000476795.1:n.1374-24A>C
NM_022041.3:c.1374-24A>C , LRG_242t1:c.1374-24A>C	NP_071324.1:n.1374-24A>C
XM_017023734.1:c.735-24A>C	XP_016879223.1:n.735-24A>C
NM_001377486.1:c.735-24A>C	NP_001364415.1:n.735-24A>C
NM_022041.4:c.1374-24A>C MANE Select	NP_071324.1:n.1374-24A>C