Canonical Allele Identifier: CA414941142

Gene: SRY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787224T>C , CM000686.2:g.2787224T>C	GRCh38
NC_000024.9:g.2655265T>C , CM000686.1:g.2655265T>C	GRCh37
NC_000024.8:g.2715265T>C	NCBI36
NG_011751.1:g.5528A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003140.3:c.380A>G MANE Select	NP_003131.1:p.Tyr127Cys
ENST00000383070.2:c.380A>G MANE Select	ENSP00000372547.1:p.Tyr127Cys
NM_003140.2:c.380A>G	NP_003131.1:p.Tyr127Cys
ENST00000383070.1:c.380A>G	ENSP00000372547.1:p.Tyr127Cys
ENST00000679518.1:n.106+12485T>C
ENST00000679825.1:n.336T>C
ENST00000680285.1:n.320-2525T>C
ENST00000680845.1:n.165+171T>C
ENST00000681787.1:n.106+12485T>C
ENST00000681940.1:n.106+12485T>C