Canonical Allele Identifier: CA12436037
Gene: MOXD1 HGNC NCBI
COSMIC:
COSN14779282 (not active)
MyVariant.info:
GRCh38 chr6:g.132302045C>T
GRCh37 chr6:g.132623184C>T
gnomAD v2:
6:132623184 C / T
gnomAD v3:
6:132302045 C / T
gnomAD v4:
chr6-132302045-C-T
Joint Max Group AF 0.67483708 (AFR)
Genomes Max Group AF 0.67483708 (AFR)
dbSNP:
4897574
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.132302045C>T , CM000668.2:g.132302045C>T GRCh38
NC_000006.11:g.132623184C>T , CM000668.1:g.132623184C>T GRCh37
NC_000006.10:g.132664877C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367963.8:c.1509-4090G>A MANE Select ENSP00000356940.3:n.1509-4090G>A
ENST00000336749.3:c.1305-4090G>A ENSP00000336998.3:n.1305-4090G>A
ENST00000367963.7:c.1509-4090G>A ENSP00000356940.3:n.1509-4090G>A
NM_015529.3:c.1509-4090G>A NP_056344.2:n.1509-4090G>A
XM_017010714.2:c.1404-4090G>A XP_016866203.1:n.1404-4090G>A
NM_015529.4:c.1509-4090G>A MANE Select NP_056344.2:n.1509-4090G>A
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