Canonical Allele Identifier: CA414941183

Gene: SRY

Linked Data

• MyVariant Identifiers: chrY:g.2655281C>G (hg19) ; chrY:g.2787240C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787240C>G , CM000686.2:g.2787240C>G	GRCh38
NC_000024.9:g.2655281C>G , CM000686.1:g.2655281C>G	GRCh37
NC_000024.8:g.2715281C>G	NCBI36
NG_011751.1:g.5512G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12501C>G
ENST00000679825.1:n.352C>G
ENST00000680285.1:n.320-2509C>G
ENST00000680845.1:n.165+187C>G
ENST00000681787.1:n.106+12501C>G
ENST00000681940.1:n.106+12501C>G
ENST00000383070.2:c.364G>C MANE Select	ENSP00000372547.1:p.Glu122Gln
ENST00000383070.1:c.364G>C	ENSP00000372547.1:p.Glu122Gln
NM_003140.2:c.364G>C	NP_003131.1:p.Glu122Gln
NM_003140.3:c.364G>C MANE Select	NP_003131.1:p.Glu122Gln