Canonical Allele Identifier: CA8191419

Gene: GAN

Linked Data

• dbSNP Id: rs755788884
• ExAC: 16:81388406 T / C
• gnomAD v2: 16-81388406-T-C
• gnomAD v3: 16-81354801-T-C
• gnomAD v4: 16-81354801-T-C
• MyVariant Identifiers: chr16:g.81388406T>C (hg19) ; chr16:g.81354801T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354801T>C , CM000678.2:g.81354801T>C	GRCh38
NC_000016.9:g.81388406T>C , CM000678.1:g.81388406T>C	GRCh37
NC_000016.8:g.79945907T>C	NCBI36
NG_009007.1:g.44836T>C , LRG_242:g.44836T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*341+46T>C	ENSP00000498114.1:n.*341+46T>C
ENST00000648994.2:c.633+46T>C MANE Select	ENSP00000497351.1:n.633+46T>C
ENST00000650388.1:c.168-1984T>C	ENSP00000498081.1:n.168-1984T>C
ENST00000674788.1:n.804T>C
ENST00000568107.2:c.633+46T>C	ENSP00000476795.1:n.633+46T>C
NM_022041.3:c.633+46T>C , LRG_242t1:c.633+46T>C	NP_071324.1:n.633+46T>C
XM_017023734.1:c.-7+46T>C	XP_016879223.1:n.-7+46T>C
NM_001377486.1:c.-7+46T>C	NP_001364415.1:n.-7+46T>C
NM_022041.4:c.633+46T>C MANE Select	NP_071324.1:n.633+46T>C