Canonical Allele Identifier: CA396891391

Gene: GAN

Linked Data

• dbSNP Id: rs1464334329
• gnomAD v2: 16-81399022-G-C
• gnomAD v4: 16-81365417-G-C
• MyVariant Identifiers: chr16:g.81399022G>C (hg19) ; chr16:g.81365417G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365417G>C , CM000678.2:g.81365417G>C	GRCh38
NC_000016.9:g.81399022G>C , CM000678.1:g.81399022G>C	GRCh37
NC_000016.8:g.79956523G>C	NCBI36
NG_009007.1:g.55452G>C , LRG_242:g.55452G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*1149G>C	ENSP00000498114.1:n.*1149G>C
ENST00000648994.2:c.1441G>C MANE Select	ENSP00000497351.1:p.Asp481His
ENST00000650388.1:c.975G>C	ENSP00000498081.1:n.975G>C
ENST00000568107.2:c.1441G>C	ENSP00000476795.1:p.Asp481His
NM_022041.3:c.1441G>C , LRG_242t1:c.1441G>C	NP_071324.1:p.Asp481His
XM_017023734.1:c.802G>C	XP_016879223.1:p.Asp268His
NM_001377486.1:c.802G>C	NP_001364415.1:p.Asp268His
NM_022041.4:c.1441G>C MANE Select	NP_071324.1:p.Asp481His