Canonical Allele Identifier: CA414941221
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787255G>T , CM000686.2:g.2787255G>T GRCh38
NC_000024.9:g.2655296G>T , CM000686.1:g.2655296G>T GRCh37
NC_000024.8:g.2715296G>T NCBI36
NG_011751.1:g.5497C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12516G>T
ENST00000679825.1:n.367G>T
ENST00000680285.1:n.320-2494G>T
ENST00000680845.1:n.165+202G>T
ENST00000681787.1:n.106+12516G>T
ENST00000681940.1:n.106+12516G>T
ENST00000383070.2:c.349C>A MANE Select ENSP00000372547.1:p.Gln117Lys
ENST00000383070.1:c.349C>A ENSP00000372547.1:p.Gln117Lys
NM_003140.2:c.349C>A NP_003131.1:p.Gln117Lys
NM_003140.3:c.349C>A MANE Select NP_003131.1:p.Gln117Lys