Canonical Allele Identifier: CA414941670

Gene: SRY

Linked Data

• dbSNP Id: rs1325077544
• gnomAD v2: Y-2655490-C-T
• MyVariant Identifiers: chrY:g.2655490C>T (hg19) ; chrY:g.2787449C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787449C>T , CM000686.2:g.2787449C>T	GRCh38
NC_000024.9:g.2655490C>T , CM000686.1:g.2655490C>T	GRCh37
NC_000024.8:g.2715490C>T	NCBI36
NG_011751.1:g.5303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12710C>T
ENST00000679825.1:n.561C>T
ENST00000680285.1:n.320-2300C>T
ENST00000680845.1:n.166-31C>T
ENST00000681787.1:n.106+12710C>T
ENST00000681940.1:n.106+12710C>T
ENST00000383070.2:c.155G>A MANE Select	ENSP00000372547.1:p.Ser52Asn
ENST00000383070.1:c.155G>A	ENSP00000372547.1:p.Ser52Asn
NM_003140.2:c.155G>A	NP_003131.1:p.Ser52Asn
NM_003140.3:c.155G>A MANE Select	NP_003131.1:p.Ser52Asn