Canonical Allele Identifier: CA1138668970
Gene: SRY HGNC NCBI

Linked Data

gnomAD v3: Y-2786932-G-C
gnomAD v4: Y-2786932-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2786932G>C , CM000686.2:g.2786932G>C GRCh38
NC_000024.9:g.2654973G>C , CM000686.1:g.2654973G>C GRCh37
NC_000024.8:g.2714973G>C NCBI36
NG_011751.1:g.5820C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12193G>C
ENST00000679825.1:n.107-63G>C
ENST00000680285.1:n.320-2817G>C
ENST00000680845.1:n.107-63G>C
ENST00000681787.1:n.106+12193G>C
ENST00000681940.1:n.106+12193G>C
ENST00000383070.2:c.*57C>G MANE Select ENSP00000372547.1:n.*57C>G
ENST00000383070.1:c.*57C>G ENSP00000372547.1:n.*57C>G
NM_003140.2:c.*57C>G NP_003131.1:n.*57C>G
NM_003140.3:c.*57C>G MANE Select NP_003131.1:n.*57C>G
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