Canonical Allele Identifier: CA2695237529
Gene: SRY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787375dup , CM000686.2:g.2787375dup GRCh38
NC_000024.9:g.2655416dup , CM000686.1:g.2655416dup GRCh37
NC_000024.8:g.2715416dup NCBI36
NG_011751.1:g.5378dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12636dup
ENST00000679825.1:n.487dup
ENST00000680285.1:n.320-2374dup
ENST00000680845.1:n.166-105dup
ENST00000681787.1:n.106+12636dup
ENST00000681940.1:n.106+12636dup
ENST00000383070.2:c.230dup MANE Select ENSP00000372547.1:p.Met78AspfsTer26
ENST00000383070.1:c.230dup ENSP00000372547.1:p.Met78AspfsTer26
NM_003140.2:c.230dup NP_003131.1:p.Met78AspfsTer26
NM_003140.3:c.230dup MANE Select NP_003131.1:p.Met78AspfsTer26