Canonical Allele Identifier: CA414941411

Gene: SRY

Linked Data

• MyVariant Identifiers: chrY:g.2655376A>G (hg19) ; chrY:g.2787335A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787335A>G , CM000686.2:g.2787335A>G	GRCh38
NC_000024.9:g.2655376A>G , CM000686.1:g.2655376A>G	GRCh37
NC_000024.8:g.2715376A>G	NCBI36
NG_011751.1:g.5417T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12596A>G
ENST00000679825.1:n.447A>G
ENST00000680285.1:n.320-2414A>G
ENST00000680845.1:n.166-145A>G
ENST00000681787.1:n.106+12596A>G
ENST00000681940.1:n.106+12596A>G
ENST00000383070.2:c.269T>C MANE Select	ENSP00000372547.1:p.Ile90Thr
ENST00000383070.1:c.269T>C	ENSP00000372547.1:p.Ile90Thr
NM_003140.2:c.269T>C	NP_003131.1:p.Ile90Thr
NM_003140.3:c.269T>C MANE Select	NP_003131.1:p.Ile90Thr