Canonical Allele Identifier: CA414941242
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2124486008

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787264G>C , CM000686.2:g.2787264G>C GRCh38
NC_000024.9:g.2655305G>C , CM000686.1:g.2655305G>C GRCh37
NC_000024.8:g.2715305G>C NCBI36
NG_011751.1:g.5488C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12525G>C
ENST00000679825.1:n.376G>C
ENST00000680285.1:n.320-2485G>C
ENST00000680845.1:n.165+211G>C
ENST00000681787.1:n.106+12525G>C
ENST00000681940.1:n.106+12525G>C
ENST00000383070.2:c.340C>G MANE Select ENSP00000372547.1:p.Gln114Glu
ENST00000383070.1:c.340C>G ENSP00000372547.1:p.Gln114Glu
NM_003140.2:c.340C>G NP_003131.1:p.Gln114Glu
NM_003140.3:c.340C>G MANE Select NP_003131.1:p.Gln114Glu