Canonical Allele Identifier: CA414940808
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787078T>C , CM000686.2:g.2787078T>C GRCh38
NC_000024.9:g.2655119T>C , CM000686.1:g.2655119T>C GRCh37
NC_000024.8:g.2715119T>C NCBI36
NG_011751.1:g.5674A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12339T>C
ENST00000679825.1:n.190T>C
ENST00000680285.1:n.320-2671T>C
ENST00000680845.1:n.165+25T>C
ENST00000681787.1:n.106+12339T>C
ENST00000681940.1:n.106+12339T>C
ENST00000383070.2:c.526A>G MANE Select ENSP00000372547.1:p.Met176Val
ENST00000383070.1:c.526A>G ENSP00000372547.1:p.Met176Val
NM_003140.2:c.526A>G NP_003131.1:p.Met176Val
NM_003140.3:c.526A>G MANE Select NP_003131.1:p.Met176Val