Canonical Allele Identifier: CA279354499

Gene: CRYM

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.21278084C>A , CM000678.2:g.21278084C>A	GRCh38
NC_000016.9:g.21289405C>A , CM000678.1:g.21289405C>A	GRCh37
NC_000016.8:g.21196906C>A	NCBI36
NG_011610.1:g.30013G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001376256.1:c.168G>T MANE Select	NP_001363185.1:p.Arg56Ser
ENST00000572914.2:c.168G>T MANE Select	ENSP00000461904.2:p.Arg56Ser
NM_001888.4:c.168G>T	NP_001879.1:p.Arg56Ser
NM_001888.5:c.168G>T	NP_001879.1:p.Arg56Ser
ENST00000219599.7:c.168G>T	ENSP00000219599.3:p.Arg56Ser
ENST00000219599.8:c.168G>T	ENSP00000219599.3:p.Arg56Ser
ENST00000543948.5:c.168G>T	ENSP00000440227.1:p.Arg56Ser
ENST00000571666.1:n.162G>T
ENST00000572914.1:c.168G>T	ENSP00000461904.1:p.Arg56Ser
ENST00000574448.5:c.168G>T	ENSP00000459982.1:p.Arg56Ser
ENST00000576703.5:c.42G>T	ENSP00000460126.1:p.Arg14Ser
XM_011545740.1:c.168G>T	XP_011544042.1:p.Arg56Ser
XM_024450157.1:c.168G>T	XP_024305925.1:p.Arg56Ser