Canonical Allele Identifier: CA7950712
Community Standard Title: NM_001376256.1(CRYM):c.489+38G>C
Gene: CRYM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21269752C>G , CM000678.2:g.21269752C>G GRCh38
NC_000016.9:g.21281073C>G , CM000678.1:g.21281073C>G GRCh37
NC_000016.8:g.21188574C>G NCBI36
NG_011610.1:g.38345G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001376256.1:c.489+38G>C MANE Select NP_001363185.1:n.489+38G>C
ENST00000572914.2:c.489+38G>C MANE Select ENSP00000461904.2:n.489+38G>C
NM_001888.4:c.489+38G>C NP_001879.1:n.489+38G>C
NM_001888.5:c.489+38G>C NP_001879.1:n.489+38G>C
ENST00000219599.7:c.489+38G>C ENSP00000219599.3:n.489+38G>C
ENST00000219599.8:c.489+38G>C ENSP00000219599.3:n.489+38G>C
ENST00000543948.5:c.489+38G>C ENSP00000440227.1:n.489+38G>C
ENST00000571666.1:n.456+38G>C
ENST00000574448.5:c.489+38G>C ENSP00000459982.1:n.489+38G>C
ENST00000576703.5:c.363+38G>C ENSP00000460126.1:n.363+38G>C
XM_011545740.1:c.489+38G>C XP_011544042.1:n.489+38G>C
XM_024450157.1:c.489+38G>C XP_024305925.1:n.489+38G>C
XR_950904.1:n.736-6173C>G