Canonical Allele Identifier: CA10829869
Gene: MMEL1 HGNC NCBI
dbSNP:
6684865
gnomAD v2:
1:2546229 G / A
gnomAD v3:
1:2614790 G / A
gnomAD v4:
chr1-2614790-G-A
Joint Max Group AF 0.50677303 (AFR)
Genomes Max Group AF 0.50677303 (AFR)
MyVariant.info:
GRCh38 chr1:g.2614790G>A
GRCh37 chr1:g.2546229G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2614790G>A , CM000663.2:g.2614790G>A GRCh38
NC_000001.10:g.2546229G>A , CM000663.1:g.2546229G>A GRCh37
NC_000001.9:g.2536089G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378412.8:c.155-2586C>T MANE Select ENSP00000367668.3:n.155-2586C>T
ENST00000378412.7:c.155-2586C>T ENSP00000367668.3:n.155-2586C>T
ENST00000502556.5:c.155-2586C>T ENSP00000422492.1:n.155-2586C>T
ENST00000504800.5:c.155-2586C>T ENSP00000425477.1:n.155-2586C>T
NM_033467.3:c.155-2586C>T NP_258428.2:n.155-2586C>T
XM_011542115.1:c.155-2586C>T XP_011540417.1:n.155-2586C>T
XM_011542116.1:c.155-2586C>T XP_011540418.1:n.155-2586C>T
XM_011542117.1:c.155-2586C>T XP_011540419.1:n.155-2586C>T
XM_011542118.1:c.155-3450C>T XP_011540420.1:n.155-3450C>T
XM_011542119.1:c.155-2586C>T XP_011540421.1:n.155-2586C>T
XM_011542120.1:c.-158-2586C>T XP_011540422.1:n.-158-2586C>T
XM_011542123.1:c.155-2586C>T XP_011540425.1:n.155-2586C>T
XM_011542124.1:c.155-2586C>T XP_011540426.1:n.155-2586C>T
XM_011542125.1:c.155-2586C>T XP_011540427.1:n.155-2586C>T
XR_946752.1:n.369-2586C>T
XR_946753.1:n.369-2586C>T
XR_946754.1:n.369-2586C>T
XM_017002310.1:c.155-2586C>T XP_016857799.1:n.155-2586C>T
XM_017002311.1:c.155-2586C>T XP_016857800.1:n.155-2586C>T
XM_017002312.1:c.155-3450C>T XP_016857801.1:n.155-3450C>T
XM_017002313.1:c.155-2586C>T XP_016857802.1:n.155-2586C>T
XM_017002314.1:c.155-2586C>T XP_016857803.1:n.155-2586C>T
XM_017002315.1:c.-158-2586C>T XP_016857804.1:n.-158-2586C>T
XR_001737402.1:n.369-2586C>T
NM_033467.4:c.155-2586C>T MANE Select NP_258428.2:n.155-2586C>T
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