Canonical Allele Identifier: CA414941840
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787521A>G , CM000686.2:g.2787521A>G GRCh38
NC_000024.9:g.2655562A>G , CM000686.1:g.2655562A>G GRCh37
NC_000024.8:g.2715562A>G NCBI36
NG_011751.1:g.5231T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12782A>G
ENST00000679825.1:n.633A>G
ENST00000680285.1:n.320-2228A>G
ENST00000680845.1:n.207A>G
ENST00000681787.1:n.106+12782A>G
ENST00000681940.1:n.106+12782A>G
ENST00000383070.2:c.83T>C MANE Select ENSP00000372547.1:p.Leu28Pro
ENST00000383070.1:c.83T>C ENSP00000372547.1:p.Leu28Pro
NM_003140.2:c.83T>C NP_003131.1:p.Leu28Pro
NM_003140.3:c.83T>C MANE Select NP_003131.1:p.Leu28Pro