Canonical Allele Identifier: CA210695

Gene: SRY

Linked Data

• ClinVar Variation Id: 9741
• ClinVar RCV Id: RCV000010394 ; RCV000010395
• dbSNP Id: rs104894959
• gnomAD v2: Y-2655375-G-C
• MyVariant Identifiers: chrY:g.2655375G>C (hg19) ; chrY:g.2787334G>C (hg38)
• PubMed: PMID:1483689 ; PMID:1570829 ; PMID:1734522 ; PMID:1956279 ; PMID:2247149 ; PMID:8257986 ; PMID:9450909 ; PMID:12793612

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787334G>C , CM000686.2:g.2787334G>C	GRCh38
NC_000024.9:g.2655375G>C , CM000686.1:g.2655375G>C	GRCh37
NC_000024.8:g.2715375G>C	NCBI36
NG_011751.1:g.5418C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000679518.1:n.106+12595G>C
ENST00000679825.1:n.446G>C
ENST00000680285.1:n.320-2415G>C
ENST00000680845.1:n.166-146G>C
ENST00000681787.1:n.106+12595G>C
ENST00000681940.1:n.106+12595G>C
ENST00000383070.2:c.270C>G MANE Select	ENSP00000372547.1:p.Ile90Met
ENST00000383070.1:c.270C>G	ENSP00000372547.1:p.Ile90Met
NM_003140.2:c.270C>G	NP_003131.1:p.Ile90Met
NM_003140.3:c.270C>G MANE Select	NP_003131.1:p.Ile90Met