Canonical Allele Identifier: CA396873083

Gene: GAN

Linked Data

• dbSNP Id: rs1457651927
• gnomAD v3: 16-81357818-A-C
• gnomAD v4: 16-81357818-A-C
• MyVariant Identifiers: chr16:g.81391423A>C (hg19) ; chr16:g.81357818A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357818A>C , CM000678.2:g.81357818A>C	GRCh38
NC_000016.9:g.81391423A>C , CM000678.1:g.81391423A>C	GRCh37
NC_000016.8:g.79948924A>C	NCBI36
NG_009007.1:g.47853A>C , LRG_242:g.47853A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*568A>C	ENSP00000498114.1:n.*568A>C
ENST00000648994.2:c.860A>C MANE Select	ENSP00000497351.1:p.Lys287Thr
ENST00000650388.1:c.394A>C	ENSP00000498081.1:n.394A>C
ENST00000568107.2:c.860A>C	ENSP00000476795.1:p.Lys287Thr
NM_022041.3:c.860A>C , LRG_242t1:c.860A>C	NP_071324.1:p.Lys287Thr
XM_017023734.1:c.221A>C	XP_016879223.1:p.Lys74Thr
NM_001377486.1:c.221A>C	NP_001364415.1:p.Lys74Thr
NM_022041.4:c.860A>C MANE Select	NP_071324.1:p.Lys287Thr