Canonical Allele Identifier: CA396854539

Gene: GAN

Linked Data

• ClinVar Variation Id: 1055925
• ClinVar RCV Id: RCV001364676
• dbSNP Id: rs1242438215
• gnomAD v4: 16-81315175-G-C
• MyVariant Identifiers: chr16:g.81348780G>C (hg19) ; chr16:g.81315175G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81315175G>C , CM000678.2:g.81315175G>C	GRCh38
NC_000016.9:g.81348780G>C , CM000678.1:g.81348780G>C	GRCh37
NC_000016.8:g.79906281G>C	NCBI36
NG_009007.1:g.5210G>C , LRG_242:g.5210G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.62G>C	ENSP00000498114.1:p.Ser21Thr
ENST00000648994.2:c.62G>C MANE Select	ENSP00000497351.1:p.Ser21Thr
ENST00000650388.1:c.62G>C	ENSP00000498081.1:p.Ser21Thr
ENST00000674788.1:n.187G>C
ENST00000568107.2:c.62G>C	ENSP00000476795.1:p.Ser21Thr
NM_022041.3:c.62G>C , LRG_242t1:c.62G>C	NP_071324.1:p.Ser21Thr
XM_017023734.1:c.-463G>C	XP_016879223.1:n.-463G>C
NM_001377486.1:c.-463G>C	NP_001364415.1:n.-463G>C
NM_022041.4:c.62G>C MANE Select	NP_071324.1:p.Ser21Thr