Canonical Allele Identifier: CA10571220

Gene: SRY

Linked Data

• ClinVar Variation Id: 703672
• ClinVar RCV Id: RCV001692308
• dbSNP Id: rs11575897
• ExAC: Y:2655180 G / A
• gnomAD v2: Y-2655180-G-A
• gnomAD v3: Y-2787139-G-A
• gnomAD v4: Y-2787139-G-A
• MyVariant Identifiers: chrY:g.2655180G>A (hg19) ; chrY:g.2787139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787139G>A , CM000686.2:g.2787139G>A	GRCh38
NC_000024.9:g.2655180G>A , CM000686.1:g.2655180G>A	GRCh37
NC_000024.8:g.2715180G>A	NCBI36
NG_011751.1:g.5613C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000679518.1:n.106+12400G>A
ENST00000679825.1:n.251G>A
ENST00000680285.1:n.320-2610G>A
ENST00000680845.1:n.165+86G>A
ENST00000681787.1:n.106+12400G>A
ENST00000681940.1:n.106+12400G>A
ENST00000383070.2:c.465C>T MANE Select	ENSP00000372547.1:p.Ser155=
ENST00000383070.1:c.465C>T	ENSP00000372547.1:p.Ser155=
NM_003140.2:c.465C>T	NP_003131.1:p.Ser155=
NM_003140.3:c.465C>T MANE Select	NP_003131.1:p.Ser155=