Canonical Allele Identifier: CA7950729
Community Standard Title: NM_001376256.1(CRYM):c.474G>A (p.Gln158=)
Gene: CRYM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21269805C>T , CM000678.2:g.21269805C>T GRCh38
NC_000016.9:g.21281126C>T , CM000678.1:g.21281126C>T GRCh37
NC_000016.8:g.21188627C>T NCBI36
NG_011610.1:g.38292G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001376256.1:c.474G>A MANE Select NP_001363185.1:p.Gln158=
ENST00000572914.2:c.474G>A MANE Select ENSP00000461904.2:p.Gln158=
NM_001888.4:c.474G>A NP_001879.1:p.Gln158=
NM_001888.5:c.474G>A NP_001879.1:p.Gln158=
ENST00000219599.7:c.474G>A ENSP00000219599.3:p.Gln158=
ENST00000219599.8:c.474G>A ENSP00000219599.3:p.Gln158=
ENST00000543948.5:c.474G>A ENSP00000440227.1:p.Gln158=
ENST00000571666.1:n.441G>A
ENST00000574448.5:c.474G>A ENSP00000459982.1:p.Gln158=
ENST00000576703.5:c.348G>A ENSP00000460126.1:p.Gln116=
XM_011545740.1:c.474G>A XP_011544042.1:p.Gln158=
XM_024450157.1:c.474G>A XP_024305925.1:p.Gln158=
XR_950904.1:n.736-6120C>T