Canonical Allele Identifier: CA337437886
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs953567872
gnomAD v3: Y-2786919-G-C
gnomAD v4: Y-2786919-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2786919G>C , CM000686.2:g.2786919G>C GRCh38
NC_000024.9:g.2654960G>C , CM000686.1:g.2654960G>C GRCh37
NC_000024.8:g.2714960G>C NCBI36
NG_011751.1:g.5833C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12180G>C
ENST00000679825.1:n.107-76G>C
ENST00000680285.1:n.320-2830G>C
ENST00000680845.1:n.107-76G>C
ENST00000681787.1:n.106+12180G>C
ENST00000681940.1:n.106+12180G>C
ENST00000383070.2:c.*70C>G MANE Select ENSP00000372547.1:n.*70C>G
ENST00000383070.1:c.*70C>G ENSP00000372547.1:n.*70C>G
NM_003140.2:c.*70C>G NP_003131.1:n.*70C>G
NM_003140.3:c.*70C>G MANE Select NP_003131.1:n.*70C>G