Canonical Allele Identifier: CA15107214
Gene: MMEL1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.2622185T>C
GRCh37 chr1:g.2553624T>C
gnomAD v2:
1:2553624 T / C
gnomAD v3:
1:2622185 T / C
gnomAD v4:
chr1-2622185-T-C
Joint Max Group AF 0.53089444 (AFR)
Genomes Max Group AF 0.53089444 (AFR)
dbSNP:
3890745
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2622185T>C , CM000663.2:g.2622185T>C GRCh38
NC_000001.10:g.2553624T>C , CM000663.1:g.2553624T>C GRCh37
NC_000001.9:g.2543484T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378412.8:c.154+7146A>G MANE Select ENSP00000367668.3:n.154+7146A>G
ENST00000378412.7:c.154+7146A>G ENSP00000367668.3:n.154+7146A>G
ENST00000502556.5:c.154+7146A>G ENSP00000422492.1:n.154+7146A>G
ENST00000504800.5:c.154+7146A>G ENSP00000425477.1:n.154+7146A>G
NM_033467.3:c.154+7146A>G NP_258428.2:n.154+7146A>G
XM_011542115.1:c.154+7146A>G XP_011540417.1:n.154+7146A>G
XM_011542116.1:c.154+7146A>G XP_011540418.1:n.154+7146A>G
XM_011542117.1:c.154+7146A>G XP_011540419.1:n.154+7146A>G
XM_011542118.1:c.154+7146A>G XP_011540420.1:n.154+7146A>G
XM_011542119.1:c.154+7146A>G XP_011540421.1:n.154+7146A>G
XM_011542120.1:c.-159+859A>G XP_011540422.1:n.-159+859A>G
XM_011542123.1:c.154+7146A>G XP_011540425.1:n.154+7146A>G
XM_011542124.1:c.154+7146A>G XP_011540426.1:n.154+7146A>G
XM_011542125.1:c.154+7146A>G XP_011540427.1:n.154+7146A>G
XR_946752.1:n.368+7146A>G
XR_946753.1:n.368+7146A>G
XR_946754.1:n.368+7146A>G
XM_017002310.1:c.154+7146A>G XP_016857799.1:n.154+7146A>G
XM_017002311.1:c.154+7146A>G XP_016857800.1:n.154+7146A>G
XM_017002312.1:c.154+7146A>G XP_016857801.1:n.154+7146A>G
XM_017002313.1:c.154+7146A>G XP_016857802.1:n.154+7146A>G
XM_017002314.1:c.154+7146A>G XP_016857803.1:n.154+7146A>G
XM_017002315.1:c.-159+859A>G XP_016857804.1:n.-159+859A>G
XR_001737402.1:n.368+7146A>G
NM_033467.4:c.154+7146A>G MANE Select NP_258428.2:n.154+7146A>G
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