Canonical Allele Identifier: CA414940610

Gene: SRY

Linked Data

• MyVariant Identifiers: chrY:g.2655034A>T (hg19) ; chrY:g.2786993A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2786993A>T , CM000686.2:g.2786993A>T	GRCh38
NC_000024.9:g.2655034A>T , CM000686.1:g.2655034A>T	GRCh37
NC_000024.8:g.2715034A>T	NCBI36
NG_011751.1:g.5759T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000679518.1:n.106+12254A>T
ENST00000679825.1:n.107-2A>T
ENST00000680285.1:n.320-2756A>T
ENST00000680845.1:n.107-2A>T
ENST00000681787.1:n.106+12254A>T
ENST00000681940.1:n.106+12254A>T
ENST00000383070.2:c.611T>A MANE Select	ENSP00000372547.1:p.Leu204Gln
ENST00000383070.1:c.611T>A	ENSP00000372547.1:p.Leu204Gln
NM_003140.2:c.611T>A	NP_003131.1:p.Leu204Gln
NM_003140.3:c.611T>A MANE Select	NP_003131.1:p.Leu204Gln