Canonical Allele Identifier: CA519724289
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2124485906
MyVariant Identifiers: chrY:g.2655258A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787217A>G , CM000686.2:g.2787217A>G GRCh38
NC_000024.9:g.2655258A>G , CM000686.1:g.2655258A>G GRCh37
NC_000024.8:g.2715258A>G NCBI36
NG_011751.1:g.5535T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12478A>G
ENST00000679825.1:n.329A>G
ENST00000680285.1:n.320-2532A>G
ENST00000680845.1:n.165+164A>G
ENST00000681787.1:n.106+12478A>G
ENST00000681940.1:n.106+12478A>G
ENST00000383070.2:c.387T>C MANE Select ENSP00000372547.1:p.Tyr129=
ENST00000383070.1:c.387T>C ENSP00000372547.1:p.Tyr129=
NM_003140.2:c.387T>C NP_003131.1:p.Tyr129=
NM_003140.3:c.387T>C MANE Select NP_003131.1:p.Tyr129=