Canonical Allele Identifier: CA396869197

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81388323T>C (hg19) ; chr16:g.81354718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354718T>C , CM000678.2:g.81354718T>C	GRCh38
NC_000016.9:g.81388323T>C , CM000678.1:g.81388323T>C	GRCh37
NC_000016.8:g.79945824T>C	NCBI36
NG_009007.1:g.44753T>C , LRG_242:g.44753T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*304T>C	ENSP00000498114.1:n.*304T>C
ENST00000648994.2:c.596T>C MANE Select	ENSP00000497351.1:p.Val199Ala
ENST00000650388.1:c.168-2067T>C	ENSP00000498081.1:n.168-2067T>C
ENST00000674788.1:n.721T>C
ENST00000568107.2:c.596T>C	ENSP00000476795.1:p.Val199Ala
NM_022041.3:c.596T>C , LRG_242t1:c.596T>C	NP_071324.1:p.Val199Ala
XM_017023734.1:c.-44T>C	XP_016879223.1:n.-44T>C
NM_001377486.1:c.-44T>C	NP_001364415.1:n.-44T>C
NM_022041.4:c.596T>C MANE Select	NP_071324.1:p.Val199Ala