Canonical Allele Identifier: CA414941569
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787405A>C , CM000686.2:g.2787405A>C GRCh38
NC_000024.9:g.2655446A>C , CM000686.1:g.2655446A>C GRCh37
NC_000024.8:g.2715446A>C NCBI36
NG_011751.1:g.5347T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12666A>C
ENST00000679825.1:n.517A>C
ENST00000680285.1:n.320-2344A>C
ENST00000680845.1:n.166-75A>C
ENST00000681787.1:n.106+12666A>C
ENST00000681940.1:n.106+12666A>C
ENST00000383070.2:c.199T>G MANE Select ENSP00000372547.1:p.Phe67Val
ENST00000383070.1:c.199T>G ENSP00000372547.1:p.Phe67Val
NM_003140.2:c.199T>G NP_003131.1:p.Phe67Val
NM_003140.3:c.199T>G MANE Select NP_003131.1:p.Phe67Val