Canonical Allele Identifier: CA414941336
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787304C>T , CM000686.2:g.2787304C>T GRCh38
NC_000024.9:g.2655345C>T , CM000686.1:g.2655345C>T GRCh37
NC_000024.8:g.2715345C>T NCBI36
NG_011751.1:g.5448G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12565C>T
ENST00000679825.1:n.416C>T
ENST00000680285.1:n.320-2445C>T
ENST00000680845.1:n.166-176C>T
ENST00000681787.1:n.106+12565C>T
ENST00000681940.1:n.106+12565C>T
ENST00000383070.2:c.300G>A MANE Select ENSP00000372547.1:p.Met100Ile
ENST00000383070.1:c.300G>A ENSP00000372547.1:p.Met100Ile
NM_003140.2:c.300G>A NP_003131.1:p.Met100Ile
NM_003140.3:c.300G>A MANE Select NP_003131.1:p.Met100Ile