Canonical Allele Identifier: CA10571933
Gene: AMELY HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.6868402C>A
GRCh37 chrY:g.6736443C>A
Revel Score:
ENST00000383036 0.167
ENST00000383037 0.167
gnomAD v2:
Y:6736443 C / A
gnomAD v3:
Y:6868402 C / A
gnomAD v4:
chrY-6868402-C-A
Joint Max Group AF 0.0000529 (AFR)
Genomes Max Group AF 0.00002587 (NFE)
Exomes Max Group AF 0.0001155 (AFR)
dbSNP:
35815655
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6868402C>A , CM000686.2:g.6868402C>A GRCh38
NC_000024.9:g.6736443C>A , CM000686.1:g.6736443C>A GRCh37
NC_000024.8:g.6796443C>A NCBI36
NG_008011.1:g.10626G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.208G>T MANE Select ENSP00000498344.1:p.Val70Leu
ENST00000215479.10:c.208G>T ENSP00000215479.5:p.Val70Leu
ENST00000651267.1:c.208G>T ENSP00000498344.1:p.Val70Leu
ENST00000215479.9:c.208G>T ENSP00000215479.5:p.Val70Leu
ENST00000383036.1:c.250G>T ENSP00000372505.1:p.Val84Leu
NM_001143.1:c.208G>T NP_001134.1:p.Val70Leu
XM_011531472.1:c.250G>T XP_011529774.1:p.Val84Leu
NM_001364814.1:c.250G>T NP_001351743.1:p.Val84Leu
NM_001143.2:c.208G>T MANE Select NP_001134.1:p.Val70Leu
Search 100 bp 5'
Search 100 bp 3'