Canonical Allele Identifier: CA414941180
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787239T>G , CM000686.2:g.2787239T>G GRCh38
NC_000024.9:g.2655280T>G , CM000686.1:g.2655280T>G GRCh37
NC_000024.8:g.2715280T>G NCBI36
NG_011751.1:g.5513A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12500T>G
ENST00000679825.1:n.351T>G
ENST00000680285.1:n.320-2510T>G
ENST00000680845.1:n.165+186T>G
ENST00000681787.1:n.106+12500T>G
ENST00000681940.1:n.106+12500T>G
ENST00000383070.2:c.365A>C MANE Select ENSP00000372547.1:p.Glu122Ala
ENST00000383070.1:c.365A>C ENSP00000372547.1:p.Glu122Ala
NM_003140.2:c.365A>C NP_003131.1:p.Glu122Ala
NM_003140.3:c.365A>C MANE Select NP_003131.1:p.Glu122Ala