Canonical Allele Identifier: CA2634487929
Gene: GAN HGNC NCBI

Linked Data

gnomAD v4: 16-81354817-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354817G>C , CM000678.2:g.81354817G>C GRCh38
NC_000016.9:g.81388422G>C , CM000678.1:g.81388422G>C GRCh37
NC_000016.8:g.79945923G>C NCBI36
NG_009007.1:g.44852G>C , LRG_242:g.44852G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*341+62G>C ENSP00000498114.1:n.*341+62G>C
ENST00000648994.2:c.633+62G>C MANE Select ENSP00000497351.1:n.633+62G>C
ENST00000650388.1:c.168-1968G>C ENSP00000498081.1:n.168-1968G>C
ENST00000674788.1:n.820G>C
ENST00000568107.2:c.633+62G>C ENSP00000476795.1:n.633+62G>C
NM_022041.3:c.633+62G>C , LRG_242t1:c.633+62G>C NP_071324.1:n.633+62G>C
XM_017023734.1:c.-7+62G>C XP_016879223.1:n.-7+62G>C
NM_001377486.1:c.-7+62G>C NP_001364415.1:n.-7+62G>C
NM_022041.4:c.633+62G>C MANE Select NP_071324.1:n.633+62G>C
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