Canonical Allele Identifier: CA396869554
Gene: GAN HGNC NCBI

Linked Data

gnomAD v4: 16-81354754-A-G
MyVariant Identifiers: chr16:g.81388359A>G (hg19) chr16:g.81354754A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354754A>G , CM000678.2:g.81354754A>G GRCh38
NC_000016.9:g.81388359A>G , CM000678.1:g.81388359A>G GRCh37
NC_000016.8:g.79945860A>G NCBI36
NG_009007.1:g.44789A>G , LRG_242:g.44789A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*340A>G ENSP00000498114.1:n.*340A>G
ENST00000648994.2:c.632A>G MANE Select ENSP00000497351.1:p.Lys211Arg
ENST00000650388.1:c.168-2031A>G ENSP00000498081.1:n.168-2031A>G
ENST00000674788.1:n.757A>G
ENST00000568107.2:c.632A>G ENSP00000476795.1:p.Lys211Arg
NM_022041.3:c.632A>G , LRG_242t1:c.632A>G NP_071324.1:p.Lys211Arg
XM_017023734.1:c.-8A>G XP_016879223.1:n.-8A>G
NM_001377486.1:c.-8A>G NP_001364415.1:n.-8A>G
NM_022041.4:c.632A>G MANE Select NP_071324.1:p.Lys211Arg
Search 100 bp 5'
Search 100 bp 3'