Canonical Allele Identifier: CA396873421

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81391483T>C (hg19) ; chr16:g.81357878T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357878T>C , CM000678.2:g.81357878T>C	GRCh38
NC_000016.9:g.81391483T>C , CM000678.1:g.81391483T>C	GRCh37
NC_000016.8:g.79948984T>C	NCBI36
NG_009007.1:g.47913T>C , LRG_242:g.47913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*628T>C	ENSP00000498114.1:n.*628T>C
ENST00000648994.2:c.920T>C MANE Select	ENSP00000497351.1:p.Ile307Thr
ENST00000650388.1:c.454T>C	ENSP00000498081.1:n.454T>C
ENST00000568107.2:c.920T>C	ENSP00000476795.1:p.Ile307Thr
NM_022041.3:c.920T>C , LRG_242t1:c.920T>C	NP_071324.1:p.Ile307Thr
XM_017023734.1:c.281T>C	XP_016879223.1:p.Ile94Thr
NM_001377486.1:c.281T>C	NP_001364415.1:p.Ile94Thr
NM_022041.4:c.920T>C MANE Select	NP_071324.1:p.Ile307Thr