Canonical Allele Identifier: CA396873154

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81391439G>C (hg19) ; chr16:g.81357834G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357834G>C , CM000678.2:g.81357834G>C	GRCh38
NC_000016.9:g.81391439G>C , CM000678.1:g.81391439G>C	GRCh37
NC_000016.8:g.79948940G>C	NCBI36
NG_009007.1:g.47869G>C , LRG_242:g.47869G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*584G>C	ENSP00000498114.1:n.*584G>C
ENST00000648994.2:c.876G>C MANE Select	ENSP00000497351.1:p.Met292Ile
ENST00000650388.1:c.410G>C	ENSP00000498081.1:n.410G>C
ENST00000568107.2:c.876G>C	ENSP00000476795.1:p.Met292Ile
NM_022041.3:c.876G>C , LRG_242t1:c.876G>C	NP_071324.1:p.Met292Ile
XM_017023734.1:c.237G>C	XP_016879223.1:p.Met79Ile
NM_001377486.1:c.237G>C	NP_001364415.1:p.Met79Ile
NM_022041.4:c.876G>C MANE Select	NP_071324.1:p.Met292Ile