Canonical Allele Identifier: CA10571226
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs776339584
gnomAD v2: Y-2655426-A-C
gnomAD v3: Y-2787385-A-C
gnomAD v4: Y-2787385-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787385A>C , CM000686.2:g.2787385A>C GRCh38
NC_000024.9:g.2655426A>C , CM000686.1:g.2655426A>C GRCh37
NC_000024.8:g.2715426A>C NCBI36
NG_011751.1:g.5367T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12646A>C
ENST00000679825.1:n.497A>C
ENST00000680285.1:n.320-2364A>C
ENST00000680845.1:n.166-95A>C
ENST00000681787.1:n.106+12646A>C
ENST00000681940.1:n.106+12646A>C
ENST00000383070.2:c.219T>G MANE Select ENSP00000372547.1:p.Asp73Glu
ENST00000383070.1:c.219T>G ENSP00000372547.1:p.Asp73Glu
NM_003140.2:c.219T>G NP_003131.1:p.Asp73Glu
NM_003140.3:c.219T>G MANE Select NP_003131.1:p.Asp73Glu