Canonical Allele Identifier: CA2579746172
Gene: SRY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2786951T>A , CM000686.2:g.2786951T>A GRCh38
NC_000024.9:g.2654992T>A , CM000686.1:g.2654992T>A GRCh37
NC_000024.8:g.2714992T>A NCBI36
NG_011751.1:g.5801A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12212T>A
ENST00000679825.1:n.107-44T>A
ENST00000680285.1:n.320-2798T>A
ENST00000680845.1:n.107-44T>A
ENST00000681787.1:n.106+12212T>A
ENST00000681940.1:n.106+12212T>A
ENST00000383070.2:c.*38A>T MANE Select ENSP00000372547.1:n.*38A>T
ENST00000383070.1:c.*38A>T ENSP00000372547.1:n.*38A>T
NM_003140.2:c.*38A>T NP_003131.1:n.*38A>T
NM_003140.3:c.*38A>T MANE Select NP_003131.1:n.*38A>T