Canonical Allele Identifier: CA284264163

Gene: GAN

Linked Data

• dbSNP Id: rs1041340541
• gnomAD v2: 16-81348671-C-T
• gnomAD v4: 16-81315066-C-T
• MyVariant Identifiers: chr16:g.81348671C>T (hg19) ; chr16:g.81315066C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81315066C>T , CM000678.2:g.81315066C>T	GRCh38
NC_000016.9:g.81348671C>T , CM000678.1:g.81348671C>T	GRCh37
NC_000016.8:g.79906172C>T	NCBI36
NG_009007.1:g.5101C>T , LRG_242:g.5101C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.-48C>T	ENSP00000498114.1:n.-48C>T
ENST00000648994.2:c.-48C>T MANE Select	ENSP00000497351.1:n.-48C>T
ENST00000674788.1:n.78C>T
ENST00000568107.2:c.-48C>T	ENSP00000476795.1:n.-48C>T
NM_022041.3:c.-48C>T , LRG_242t1:c.-48C>T	NP_071324.1:n.-48C>T
XM_017023734.1:c.-572C>T	XP_016879223.1:n.-572C>T
NM_001377486.1:c.-572C>T	NP_001364415.1:n.-572C>T
NM_022041.4:c.-48C>T MANE Select	NP_071324.1:n.-48C>T