Canonical Allele Identifier: CA15422796
Gene: TSPYL4 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.116250532G>A
GRCh37 chr6:g.116571695G>A
gnomAD v2:
6:116571695 G / A
gnomAD v3:
6:116250532 G / A
gnomAD v4:
chr6-116250532-G-A
Joint Max Group AF 0.64154487 (EAS)
Genomes Max Group AF 0.64154487 (EAS)
Exomes Max Group AF 0.2044221 (NFE)
dbSNP:
3749893
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116250532G>A , CM000668.2:g.116250532G>A GRCh38
NC_000006.11:g.116571695G>A , CM000668.1:g.116571695G>A GRCh37
NC_000006.10:g.116678388G>A NCBI36
NG_033266.3:g.1381G>A
NG_033266.4:g.1362G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420283.3:c.*2232C>T MANE Select ENSP00000410943.1:n.*2232C>T
ENST00000420283.2:c.*2232C>T ENSP00000410943.1:n.*2232C>T
NM_021648.4:c.*2232C>T NP_067680.3:n.*2232C>T
NM_021648.5:c.*2232C>T MANE Select NP_067680.3:n.*2232C>T
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