Canonical Allele Identifier: CA414941349
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787308T>G , CM000686.2:g.2787308T>G GRCh38
NC_000024.9:g.2655349T>G , CM000686.1:g.2655349T>G GRCh37
NC_000024.8:g.2715349T>G NCBI36
NG_011751.1:g.5444A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12569T>G
ENST00000679825.1:n.420T>G
ENST00000680285.1:n.320-2441T>G
ENST00000680845.1:n.166-172T>G
ENST00000681787.1:n.106+12569T>G
ENST00000681940.1:n.106+12569T>G
ENST00000383070.2:c.296A>C MANE Select ENSP00000372547.1:p.Lys99Thr
ENST00000383070.1:c.296A>C ENSP00000372547.1:p.Lys99Thr
NM_003140.2:c.296A>C NP_003131.1:p.Lys99Thr
NM_003140.3:c.296A>C MANE Select NP_003131.1:p.Lys99Thr