Canonical Allele Identifier: CA414941331
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787302A>G , CM000686.2:g.2787302A>G GRCh38
NC_000024.9:g.2655343A>G , CM000686.1:g.2655343A>G GRCh37
NC_000024.8:g.2715343A>G NCBI36
NG_011751.1:g.5450T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12563A>G
ENST00000679825.1:n.414A>G
ENST00000680285.1:n.320-2447A>G
ENST00000680845.1:n.166-178A>G
ENST00000681787.1:n.106+12563A>G
ENST00000681940.1:n.106+12563A>G
ENST00000383070.2:c.302T>C MANE Select ENSP00000372547.1:p.Leu101Pro
ENST00000383070.1:c.302T>C ENSP00000372547.1:p.Leu101Pro
NM_003140.2:c.302T>C NP_003131.1:p.Leu101Pro
NM_003140.3:c.302T>C MANE Select NP_003131.1:p.Leu101Pro