Canonical Allele Identifier: CA414941344

Gene: SRY

Linked Data

• MyVariant Identifiers: chrY:g.2655347T>G (hg19) ; chrY:g.2787306T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787306T>G , CM000686.2:g.2787306T>G	GRCh38
NC_000024.9:g.2655347T>G , CM000686.1:g.2655347T>G	GRCh37
NC_000024.8:g.2715347T>G	NCBI36
NG_011751.1:g.5446A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000679518.1:n.106+12567T>G
ENST00000679825.1:n.418T>G
ENST00000680285.1:n.320-2443T>G
ENST00000680845.1:n.166-174T>G
ENST00000681787.1:n.106+12567T>G
ENST00000681940.1:n.106+12567T>G
ENST00000383070.2:c.298A>C MANE Select	ENSP00000372547.1:p.Met100Leu
ENST00000383070.1:c.298A>C	ENSP00000372547.1:p.Met100Leu
NM_003140.2:c.298A>C	NP_003131.1:p.Met100Leu
NM_003140.3:c.298A>C MANE Select	NP_003131.1:p.Met100Leu