Canonical Allele Identifier: CA284303739

Gene: GAN

Linked Data

• ClinVar Variation Id: 760450
• ClinVar RCV Id: RCV000938397
• dbSNP Id: rs1024446964
• gnomAD v4: 16-81354722-T-C
• MyVariant Identifiers: chr16:g.81388327T>C (hg19) ; chr16:g.81354722T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354722T>C , CM000678.2:g.81354722T>C	GRCh38
NC_000016.9:g.81388327T>C , CM000678.1:g.81388327T>C	GRCh37
NC_000016.8:g.79945828T>C	NCBI36
NG_009007.1:g.44757T>C , LRG_242:g.44757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*308T>C	ENSP00000498114.1:n.*308T>C
ENST00000648994.2:c.600T>C MANE Select	ENSP00000497351.1:p.Ile200=
ENST00000650388.1:c.168-2063T>C	ENSP00000498081.1:n.168-2063T>C
ENST00000674788.1:n.725T>C
ENST00000568107.2:c.600T>C	ENSP00000476795.1:p.Ile200=
NM_022041.3:c.600T>C , LRG_242t1:c.600T>C	NP_071324.1:p.Ile200=
XM_017023734.1:c.-40T>C	XP_016879223.1:n.-40T>C
NM_001377486.1:c.-40T>C	NP_001364415.1:n.-40T>C
NM_022041.4:c.600T>C MANE Select	NP_071324.1:p.Ile200=