Canonical Allele Identifier: CA10571215

Gene: SRY

Linked Data

• dbSNP Id: rs750874990
• ExAC: Y:2655003 C / G
• gnomAD v2: Y-2655003-C-G
• MyVariant Identifiers: chrY:g.2655003C>G (hg19) ; chrY:g.2786962C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2786962C>G , CM000686.2:g.2786962C>G	GRCh38
NC_000024.9:g.2655003C>G , CM000686.1:g.2655003C>G	GRCh37
NC_000024.8:g.2715003C>G	NCBI36
NG_011751.1:g.5790G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12223C>G
ENST00000679825.1:n.107-33C>G
ENST00000680285.1:n.320-2787C>G
ENST00000680845.1:n.107-33C>G
ENST00000681787.1:n.106+12223C>G
ENST00000681940.1:n.106+12223C>G
ENST00000383070.2:c.*27G>C MANE Select	ENSP00000372547.1:n.*27G>C
ENST00000383070.1:c.*27G>C	ENSP00000372547.1:n.*27G>C
NM_003140.2:c.*27G>C	NP_003131.1:n.*27G>C
NM_003140.3:c.*27G>C MANE Select	NP_003131.1:n.*27G>C