Canonical Allele Identifier: CA414941547
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787394C>T , CM000686.2:g.2787394C>T GRCh38
NC_000024.9:g.2655435C>T , CM000686.1:g.2655435C>T GRCh37
NC_000024.8:g.2715435C>T NCBI36
NG_011751.1:g.5358G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12655C>T
ENST00000679825.1:n.506C>T
ENST00000680285.1:n.320-2355C>T
ENST00000680845.1:n.166-86C>T
ENST00000681787.1:n.106+12655C>T
ENST00000681940.1:n.106+12655C>T
ENST00000383070.2:c.210G>A MANE Select ENSP00000372547.1:p.Trp70Ter
ENST00000383070.1:c.210G>A ENSP00000372547.1:p.Trp70Ter
NM_003140.2:c.210G>A NP_003131.1:p.Trp70Ter
NM_003140.3:c.210G>A MANE Select NP_003131.1:p.Trp70Ter