Canonical Allele Identifier: CA396869333

Gene: GAN

Linked Data

• gnomAD v4: 16-81354732-G-T
• MyVariant Identifiers: chr16:g.81388337G>T (hg19) ; chr16:g.81354732G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354732G>T , CM000678.2:g.81354732G>T	GRCh38
NC_000016.9:g.81388337G>T , CM000678.1:g.81388337G>T	GRCh37
NC_000016.8:g.79945838G>T	NCBI36
NG_009007.1:g.44767G>T , LRG_242:g.44767G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*318G>T	ENSP00000498114.1:n.*318G>T
ENST00000648994.2:c.610G>T MANE Select	ENSP00000497351.1:p.Ala204Ser
ENST00000650388.1:c.168-2053G>T	ENSP00000498081.1:n.168-2053G>T
ENST00000674788.1:n.735G>T
ENST00000568107.2:c.610G>T	ENSP00000476795.1:p.Ala204Ser
NM_022041.3:c.610G>T , LRG_242t1:c.610G>T	NP_071324.1:p.Ala204Ser
XM_017023734.1:c.-30G>T	XP_016879223.1:n.-30G>T
NM_001377486.1:c.-30G>T	NP_001364415.1:n.-30G>T
NM_022041.4:c.610G>T MANE Select	NP_071324.1:p.Ala204Ser