Canonical Allele Identifier: CA414941345
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs1166279862
gnomAD v2: Y-2655348-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787307T>A , CM000686.2:g.2787307T>A GRCh38
NC_000024.9:g.2655348T>A , CM000686.1:g.2655348T>A GRCh37
NC_000024.8:g.2715348T>A NCBI36
NG_011751.1:g.5445A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12568T>A
ENST00000679825.1:n.419T>A
ENST00000680285.1:n.320-2442T>A
ENST00000680845.1:n.166-173T>A
ENST00000681787.1:n.106+12568T>A
ENST00000681940.1:n.106+12568T>A
ENST00000383070.2:c.297A>T MANE Select ENSP00000372547.1:p.Lys99Asn
ENST00000383070.1:c.297A>T ENSP00000372547.1:p.Lys99Asn
NM_003140.2:c.297A>T NP_003131.1:p.Lys99Asn
NM_003140.3:c.297A>T MANE Select NP_003131.1:p.Lys99Asn