Canonical Allele Identifier: CA254886

Gene: SRY

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787551C>T , CM000686.2:g.2787551C>T	GRCh38
NC_000024.9:g.2655592C>T , CM000686.1:g.2655592C>T	GRCh37
NC_000024.8:g.2715592C>T	NCBI36
NG_011751.1:g.5201G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003140.3:c.53G>A MANE Select	NP_003131.1:p.Ser18Asn
ENST00000383070.2:c.53G>A MANE Select	ENSP00000372547.1:p.Ser18Asn
NM_003140.2:c.53G>A	NP_003131.1:p.Ser18Asn
ENST00000383070.1:c.53G>A	ENSP00000372547.1:p.Ser18Asn
ENST00000679518.1:n.106+12812C>T
ENST00000679825.1:n.663C>T
ENST00000680285.1:n.320-2198C>T
ENST00000680845.1:n.237C>T
ENST00000681787.1:n.106+12812C>T
ENST00000681940.1:n.106+12812C>T