Canonical Allele Identifier: CA337551786
Gene: AMELY HGNC NCBI
TBL1Y HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.6909036T>C
GRCh37 chrY:g.6777077T>C
gnomAD v3:
Y:6909036 T / C
gnomAD v4:
chrY-6909036-T-C
Joint Max Group AF 0.00030285 (AFR)
Genomes Max Group AF 0.00030285 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6909036T>C , CM000686.2:g.6909036T>C GRCh38
NC_000024.9:g.6777077T>C , CM000686.1:g.6777077T>C GRCh37
NC_000024.8:g.6837077T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651267.2:c.-113+2637A>G (AMELY) MANE Select ENSP00000498344.1:n.-113+2637A>G
ENST00000651267.1:c.-113+2637A>G (AMELY) ENSP00000498344.1:n.-113+2637A>G
XM_011531472.1:c.-113+2637A>G (AMELY) XP_011529774.1:n.-113+2637A>G
XM_024452497.1:c.-1418T>C (TBL1Y) XP_024308265.1:n.-1418T>C
NM_001143.2:c.-113+2637A>G (AMELY) MANE Select NP_001134.1:n.-113+2637A>G
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