Canonical Allele Identifier: CA308929206

Gene: EXOC3L2 MARK4 BLOC1S3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45215788G>C , CM000681.2:g.45215788G>C	GRCh38
NC_000019.9:g.45719046G>C , CM000681.1:g.45719046G>C	GRCh37
NC_000019.8:g.50410886G>C	NCBI36
NG_054912.1:g.23424C>G
NG_054912.2:g.34620C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001382422.1:c.2120+285C>G (EXOC3L2) MANE Select	NP_001369351.1:n.2120+285C>G
ENST00000413988.3:c.2120+285C>G (EXOC3L2) MANE Select	ENSP00000400713.2:n.2120+285C>G
NM_138568.3:c.941+285C>G (EXOC3L2)	NP_612635.3:n.941+285C>G
NM_138568.4:c.941+285C>G (EXOC3L2)	NP_612635.3:n.941+285C>G
ENST00000252482.7:c.941+285C>G	ENSP00000252482.3:n.941+285C>G
ENST00000413988.1:c.941+285C>G	ENSP00000400713.1:n.941+285C>G
ENST00000587566.5:c.-276-43201G>C (MARK4)	ENSP00000465414.1:n.-276-43201G>C
ENST00000591569.1:n.283-888G>C
XR_935826.1:n.1518-888G>C (BLOC1S3)
XR_935829.1:n.1490-888G>C (BLOC1S3)