Canonical Allele Identifier: CA724645444

Gene: GAN

Linked Data

• dbSNP Id: rs1259799840
• gnomAD v4: 16-81314977-G-T
• MyVariant Identifiers: chr16:g.81348582G>T (hg19) ; chr16:g.81314977G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81314977G>T , CM000678.2:g.81314977G>T	GRCh38
NC_000016.9:g.81348582G>T , CM000678.1:g.81348582G>T	GRCh37
NC_000016.8:g.79906083G>T	NCBI36
NG_009007.1:g.5012G>T , LRG_242:g.5012G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.-137G>T	ENSP00000498114.1:n.-137G>T
ENST00000648994.2:c.-137G>T MANE Select	ENSP00000497351.1:n.-137G>T
ENST00000568107.2:c.-137G>T	ENSP00000476795.1:n.-137G>T
NM_022041.3:c.-137G>T , LRG_242t1:c.-137G>T	NP_071324.1:n.-137G>T
XM_017023734.1:c.-661G>T	XP_016879223.1:n.-661G>T
NM_001377486.1:c.-661G>T	NP_001364415.1:n.-661G>T
NM_022041.4:c.-137G>T MANE Select	NP_071324.1:n.-137G>T