Canonical Allele Identifier: CA2824346392
Gene: SRY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787236_2787237dup , CM000686.2:g.2787236_2787237dup GRCh38
NC_000024.9:g.2655277_2655278dup , CM000686.1:g.2655277_2655278dup GRCh37
NC_000024.8:g.2715277_2715278dup NCBI36
NG_011751.1:g.5516_5517dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12497_106+12498dup
ENST00000679825.1:n.348_349dup
ENST00000680285.1:n.320-2513_320-2512dup
ENST00000680845.1:n.165+183_165+184dup
ENST00000681787.1:n.106+12497_106+12498dup
ENST00000681940.1:n.106+12497_106+12498dup
ENST00000383070.2:c.368_369dup MANE Select ENSP00000372547.1:p.Tyr124AsnfsTer?
ENST00000383070.1:c.368_369dup ENSP00000372547.1:p.Tyr124AsnfsTer?
NM_003140.2:c.368_369dup NP_003131.1:p.Tyr124AsnfsTer?
NM_003140.3:c.368_369dup MANE Select NP_003131.1:p.Tyr124AsnfsTer?