Canonical Allele Identifier: CA414940823
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787085G>T , CM000686.2:g.2787085G>T GRCh38
NC_000024.9:g.2655126G>T , CM000686.1:g.2655126G>T GRCh37
NC_000024.8:g.2715126G>T NCBI36
NG_011751.1:g.5667C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12346G>T
ENST00000679825.1:n.197G>T
ENST00000680285.1:n.320-2664G>T
ENST00000680845.1:n.165+32G>T
ENST00000681787.1:n.106+12346G>T
ENST00000681940.1:n.106+12346G>T
ENST00000383070.2:c.519C>A MANE Select ENSP00000372547.1:p.His173Gln
ENST00000383070.1:c.519C>A ENSP00000372547.1:p.His173Gln
NM_003140.2:c.519C>A NP_003131.1:p.His173Gln
NM_003140.3:c.519C>A MANE Select NP_003131.1:p.His173Gln