Canonical Allele Identifier: CA414941191
Gene: SRY HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787244G>C , CM000686.2:g.2787244G>C GRCh38
NC_000024.9:g.2655285G>C , CM000686.1:g.2655285G>C GRCh37
NC_000024.8:g.2715285G>C NCBI36
NG_011751.1:g.5508C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12505G>C
ENST00000679825.1:n.356G>C
ENST00000680285.1:n.320-2505G>C
ENST00000680845.1:n.165+191G>C
ENST00000681787.1:n.106+12505G>C
ENST00000681940.1:n.106+12505G>C
ENST00000383070.2:c.360C>G MANE Select ENSP00000372547.1:p.His120Gln
ENST00000383070.1:c.360C>G ENSP00000372547.1:p.His120Gln
NM_003140.2:c.360C>G NP_003131.1:p.His120Gln
NM_003140.3:c.360C>G MANE Select NP_003131.1:p.His120Gln