Canonical Allele Identifier: CA1138668968
Gene: SRY HGNC NCBI

Linked Data

gnomAD v3: Y-2786925-G-T
gnomAD v4: Y-2786925-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2786925G>T , CM000686.2:g.2786925G>T GRCh38
NC_000024.9:g.2654966G>T , CM000686.1:g.2654966G>T GRCh37
NC_000024.8:g.2714966G>T NCBI36
NG_011751.1:g.5827C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12186G>T
ENST00000679825.1:n.107-70G>T
ENST00000680285.1:n.320-2824G>T
ENST00000680845.1:n.107-70G>T
ENST00000681787.1:n.106+12186G>T
ENST00000681940.1:n.106+12186G>T
ENST00000383070.2:c.*64C>A MANE Select ENSP00000372547.1:n.*64C>A
ENST00000383070.1:c.*64C>A ENSP00000372547.1:n.*64C>A
NM_003140.2:c.*64C>A NP_003131.1:n.*64C>A
NM_003140.3:c.*64C>A MANE Select NP_003131.1:n.*64C>A
Search 100 bp 5'
Search 100 bp 3'