Canonical Allele Identifier: CA414940934
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787131T>A , CM000686.2:g.2787131T>A GRCh38
NC_000024.9:g.2655172T>A , CM000686.1:g.2655172T>A GRCh37
NC_000024.8:g.2715172T>A NCBI36
NG_011751.1:g.5621A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12392T>A
ENST00000679825.1:n.243T>A
ENST00000680285.1:n.320-2618T>A
ENST00000680845.1:n.165+78T>A
ENST00000681787.1:n.106+12392T>A
ENST00000681940.1:n.106+12392T>A
ENST00000383070.2:c.473A>T MANE Select ENSP00000372547.1:p.Gln158Leu
ENST00000383070.1:c.473A>T ENSP00000372547.1:p.Gln158Leu
NM_003140.2:c.473A>T NP_003131.1:p.Gln158Leu
NM_003140.3:c.473A>T MANE Select NP_003131.1:p.Gln158Leu