Canonical Allele Identifier: CA2469659954
Gene: SRY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787240C= , CM000686.2:g.2787240C= GRCh38
NC_000024.9:g.2655281C= , CM000686.1:g.2655281C= GRCh37
NC_000024.8:g.2715281C= NCBI36
NG_011751.1:g.5512G=

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12501C=
ENST00000679825.1:n.352C=
ENST00000680285.1:n.320-2509C=
ENST00000680845.1:n.165+187C=
ENST00000681787.1:n.106+12501C=
ENST00000681940.1:n.106+12501C=
ENST00000383070.2:c.364G= MANE Select ENSP00000372547.1:p.Glu122=
ENST00000383070.1:c.364G= ENSP00000372547.1:p.Glu122=
NM_003140.2:c.364G= NP_003131.1:p.Glu122=
NM_003140.3:c.364G= MANE Select NP_003131.1:p.Glu122=